49 Matching Annotations
  1. Mar 2024
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene
    1
    1. scibot 14 Mar 2024
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2024.103379

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    sciencedirect.com/science/article/pii/S1873506124000771
  3. Feb 2024
  4. www.sciencedirect.com www.sciencedirect.com
    Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
    1
    1. scibot 14 Feb 2024
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2024.103333

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    sciencedirect.com/science/article/pii/S187350612400031X
  5. www.sciencedirect.com www.sciencedirect.com
    Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5
    1
    1. scibot 02 Feb 2024
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2024.103324

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    sciencedirect.com/science/article/pii/S1873506124000229
  6. Jan 2024
  7. www.sciencedirect.com www.sciencedirect.com
    Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation
    1
    1. scibot 07 Jan 2024
      AB_2651006

      DOI: 10.1016/j.scr.2023.103293

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    sciencedirect.com/science/article/pii/S1873506123002799
  8. Oct 2023
  9. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation
    1
    1. scibot 28 Oct 2023
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2023.103232

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    sciencedirect.com/science/article/pii/S1873506123002180
  10. Sep 2023
  11. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative
    1
    1. scibot 30 Sep 2023
      AB_2651006

      DOI: 10.1016/j.scr.2023.103208

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    sciencedirect.com/science/article/pii/S1873506123001940
  12. Jul 2023
  13. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cell lines from three individuals with autism spectrum disorder
    1
    1. scibot 22 Jul 2023
      AB_2651006

      DOI: 10.1016/j.scr.2023.103170

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    sciencedirect.com/science/article/pii/S1873506123001563
  14. Mar 2023
  15. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from two ADHD patients and two healthy controls
    1
    1. scibot 28 Mar 2023
      AB_2651006

      DOI: 10.1016/j.scr.2023.103084

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    sciencedirect.com/science/article/pii/S1873506123000703
  16. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant
    1
    1. scibot 18 Mar 2023
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2023.103068

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    sciencedirect.com/science/article/pii/S1873506123000545
  17. Dec 2022
  18. www.sciencedirect.com www.sciencedirect.com
    Generation of induced Pluripotent Stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion
    1
    1. scibot 24 Dec 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.103007

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    sciencedirect.com/science/article/pii/S1873506122003567
  19. Nov 2022
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene
    1
    1. scibot 19 Nov 2022
      RRID:AB_2651006

      DOI: 10.3390/ijms232113095

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    ncbi.nlm.nih.gov/pmc/articles/PMC9654488/
  21. Sep 2022
  22. www.sciencedirect.com www.sciencedirect.com
    Generation of the human erythroblast-derived iPSC line UBTi001-A
    1
    1. scibot 08 Sep 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102910

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    sciencedirect.com/science/article/pii/S1873506122002598
  23. Aug 2022
  24. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant
    1
    1. scibot 27 Aug 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102903

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    sciencedirect.com/science/article/pii/S1873506122002525
  25. Jul 2022
  26. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene
    1
    1. scibot 09 Jul 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102856

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    sciencedirect.com/science/article/pii/S1873506122002057
  27. Jun 2022
  28. www.sciencedirect.com www.sciencedirect.com
    An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene
    1
    1. scibot 09 Jun 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102833

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    sciencedirect.com/science/article/pii/S1873506122001829
  29. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
    1
    1. scibot 02 Jun 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102825

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    sciencedirect.com/science/article/pii/S187350612200174X
  30. Feb 2022
  31. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson’s disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method
    1
    1. scibot 18 Feb 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102713

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    sciencedirect.com/science/article/pii/S1873506122000629
  32. Jan 2022
  33. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family
    1
    1. scibot 28 Jan 2022
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2022.102692

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    sciencedirect.com/science/article/pii/S1873506122000411
  34. Jul 2021
  35. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 31 Jul 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2019.101447

      Resource: (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

      Curator: @ethanbadger

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506119300777
  36. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation
    1
    1. scibot 16 Jul 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102466

      Resource: (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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    sciencedirect.com/science/article/pii/S1873506121003135
  37. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant
    1
    1. scibot 13 Jul 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102461

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    sciencedirect.com/science/article/pii/S1873506121003081
  38. Jun 2021
  39. www.sciencedirect.com www.sciencedirect.com
    Generation of IBMS-iPSC-021, -022, -023 human induced pluripotent stem cells (IBMSi016-A, IBMSi017-A, and IBMSi018-A) derived from patients with the ALDH2 rs671 polymorphism
    1
    1. scibot 11 Jun 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102416

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    sciencedirect.com/science/article/pii/S1873506121002622
  40. www.sciencedirect.com www.sciencedirect.com
    Generation of IBMS-iPSC-015, -016, -017 human induced pluripotent stem cells (IBMSi013-A, IBMSi014-A, and IBMSi015-A) derived from patients with atrial fibrillation
    1
    1. scibot 11 Jun 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102419

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    sciencedirect.com/science/article/pii/S1873506121002658
  41. Feb 2021
  42. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells FIRDIi001-A from a Taiwanese subject carrying ALDH2 pE487K mutation
    1
    1. scibot 28 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102229

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    sciencedirect.com/science/article/pii/S1873506121000751
  43. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene
    1
    1. scibot 28 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102190

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    sciencedirect.com/science/article/pii/S1873506121000362
  44. www.sciencedirect.com www.sciencedirect.com
    Generation of two human induced pluripotent stem cell lines, UNIBSi012-A and UNIBSi013-A, from two patients with Treatment-Resistant Depression
    1
    1. scibot 27 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2020.102104

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    sciencedirect.com/science/article/pii/S1873506120304050
  45. www.sciencedirect.com www.sciencedirect.com
    Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene
    1
    1. scibot 26 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2020.102032

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    sciencedirect.com/science/article/pii/S1873506120303330
  46. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene
    1
    1. scibot 26 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2020.102031

      Resource: (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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    sciencedirect.com/science/article/pii/S1873506120303329
  47. www.sciencedirect.com www.sciencedirect.com
    Generation of integration-free induced pluripotent stem cells from healthy individuals
    1
    1. scibot 25 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102269

      Resource: (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

      Curator: @Naa003

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      RRIDCUR:Validated RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S187350612100115X
  48. www.sciencedirect.com www.sciencedirect.com
    Generation of integration-free induced pluripotent stem cell lines from four pediatric ADHD patients
    1
    1. scibot 25 Feb 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102268

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    sciencedirect.com/science/article/pii/S1873506121001148
  49. Jan 2021
  50. www.sciencedirect.com www.sciencedirect.com
    Establishment and characterization of induced pluripotent stem cell (iPSCs) line UNIBSi014-A from a healthy female donor
    1
    1. scibot 31 Jan 2021
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2021.102216

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    sciencedirect.com/science/article/pii/S1873506121000623
  51. Sep 2020
  52. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subject
    1
    1. scibot 14 Sep 2020
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2020.101923

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    sciencedirect.com/science/article/pii/S1873506120302245
  53. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene
    1
    1. scibot 12 Sep 2020
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2020.101734

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506120300386
  54. Jan 2020
  55. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    1. scibot 13 Jan 2020
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2019.101422

      Resource: (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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    sciencedirect.com/science/article/pii/S1873506119300522
  56. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    1. scibot 12 Jan 2020
      RRID:AB_2651006

      DOI: 10.1016/j.scr.2019.101432

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    sciencedirect.com/science/article/pii/S1873506119300625
  57. Nov 2018
  58. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118302435
  59. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118302241
  60. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118301065
  61. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118300977
  62. www.sciencedirect.com www.sciencedirect.com
    Generation of 2 induced pluripotent stem cell lines derived from patients with Parkinson's disease carrying LRRK2 G2385R variant
    1
    1. scibot 05 Nov 2018
      RRID: AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S1873506118300400
  63. www.sciencedirect.com www.sciencedirect.com
    Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with of NEU-1 gene mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S1873506118300333
  64. www.sciencedirect.com www.sciencedirect.com
    Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118300321
  65. www.sciencedirect.com www.sciencedirect.com
    Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117302714
  66. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117302726
  67. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S1873506117302283
  68. www.sciencedirect.com www.sciencedirect.com
    Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117302295
  69. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

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      RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S1873506117302106
  70. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with Parkinson's disease carrying LRRK2 p.I2012T mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651006

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      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

      SciCrunch record: RRID:AB_2651006

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      RRID:AB_2651006
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    sciencedirect.com/science/article/pii/S1873506117302222
  71. Nov 2017
  72. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1
    1
    1. scibot 08 Nov 2017
      RRID:AB_2651006

      Curator: @Jmenke

      Resource used:

      (Thermo Fisher Scientific Cat# A24869, RRID:AB_2651006)

      SciCrunch record: RRID:AB_2651006

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      RRID:AB_2651006 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117301897