32 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_2651012

      DOI: 10.1016/j.scr.2024.103379

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    sciencedirect.com/science/article/pii/S1873506124000771
  3. Mar 2023
  4. 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_2651012

      DOI: 10.1016/j.scr.2023.103068

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506123000545
  5. Jan 2023
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of four human induced pluripotent stem cells derived from ADHD patients carrying different genotypes for the risk SNP rs1397547 in the ADHD-associated gene ADGRL3
    1
    1. scibot 06 Jan 2023
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2023.103016

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506123000028
  7. Aug 2022
  8. 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_2651012

      DOI: 10.1016/j.scr.2022.102903

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506122002525
  9. Jul 2022
  10. 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_2651012

      DOI: 10.1016/j.scr.2022.102856

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506122002057
  11. Jul 2021
  12. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 31 Jul 2021
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2019.101447

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506119300777
  13. Jun 2021
  14. 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_2651012

      DOI: 10.1016/j.scr.2021.102416

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506121002622
  15. 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_2651012

      DOI: 10.1016/j.scr.2021.102419

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506121002658
  16. Feb 2021
  17. 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_2651012

      DOI: 10.1016/j.scr.2021.102190

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    sciencedirect.com/science/article/pii/S1873506121000362
  18. 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_2651012

      DOI: 10.1016/j.scr.2020.102032

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506120303330
  19. 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_2651012

      DOI: 10.1016/j.scr.2020.102031

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506120303329
  20. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene
    1
    1. scibot 25 Feb 2021
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.101795

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506120300982
  21. Oct 2020
  22. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
    1
    1. scibot 13 Oct 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.102028

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @Naa003

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506120303299
  23. Sep 2020
  24. www.sciencedirect.com www.sciencedirect.com
    A human H1-HBB11-GFP reporter embryonic stem cell line (WAe001-A-2) generated using TALEN-based genome editing
    1
    1. scibot 17 Sep 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.101837

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506120301380
  25. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene
    1
    1. scibot 16 Sep 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.101795

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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      RRIDCUR:Validated RRID:AB_2651012
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    sciencedirect.com/science/article/pii/S1873506120300982
  26. 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 16 Sep 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.101734

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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      RRIDCUR:Validated RRID:AB_2651012
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    sciencedirect.com/science/article/pii/S1873506120300386
  27. www.sciencedirect.com www.sciencedirect.com
    Generation of a gene corrected human isogenic IBMS-iPSC-014-C from polycystic-kidney-disease induced pluripotent stem cell line using CRISPR/Cas9
    1
    1. scibot 12 Sep 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2020.101784

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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      RRIDCUR:Validated RRID:AB_2651012
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    sciencedirect.com/science/article/pii/S1873506120300878
  28. Jan 2020
  29. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 13 Jan 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2019.101422

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506119300522
  30. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 13 Jan 2020
      RRID:AB_2651012

      DOI: 10.1016/j.scr.2019.101432

      Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      Curator: @ethanbadger

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506119300625
  31. Nov 2018
  32. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

      SciCrunch record: RRID:AB_2651012

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118302435
  33. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118302307
  34. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118301065
  35. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118300977
  36. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506118300400
  37. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118300333
  38. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506118300321
  39. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117302726
  40. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2651012

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506117302283
  41. 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_2651012

      Curator: @evieth

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117302295
  42. 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_2651012

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506117302106
  43. 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_2651012

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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    sciencedirect.com/science/article/pii/S1873506117302222
  44. Nov 2017
  45. 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_2651012

      Curator: @Jmenke

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      (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)

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      RRID:AB_2651012 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506117301897