31 Matching Annotations
  1. Sep 2024
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
    1
    1. scibot 25 Sep 2024
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2019.101549

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    sciencedirect.com/science/article/pii/S1873506119301795
  3. Jul 2024
  4. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cell line (XWHNi003-A) from a female with APOE gene mutation
    1
    1. scibot 24 Jul 2024
      AB_2561766

      DOI: 10.1016/j.scr.2024.103501

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    sciencedirect.com/science/article/pii/S1873506124001995
  5. May 2024
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene
    1
    1. scibot 21 May 2024
      AB_2561766

      DOI: 10.1016/j.scr.2024.103444

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    sciencedirect.com/science/article/pii/S1873506124001429
  7. Apr 2024
  8. www.sciencedirect.com www.sciencedirect.com
    Generation of human induced pluripotent stem cell line (XWHNi004-A) from a male with APOE gene mutation
    1
    1. scibot 02 Apr 2024
      AB_2561766

      DOI: 10.1016/j.scr.2024.103398

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    sciencedirect.com/science/article/pii/S1873506124000965
  9. Nov 2023
  10. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy
    1
    1. scibot 10 Nov 2023
      AB_2561766

      DOI: 10.1016/j.scr.2023.103243

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    sciencedirect.com/science/article/pii/S1873506123002295
  11. Jun 2023
  12. www.sciencedirect.com www.sciencedirect.com
    Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H)
    1
    1. scibot 23 Jun 2023
      AB_2561766

      DOI: 10.1016/j.scr.2023.103150

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    sciencedirect.com/science/article/pii/S1873506123001368
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    Generation of induced pluripotent stem cell line (XWHNi002-A) from a female with APP gene mutation
    1
    1. scibot 22 Jun 2023
      AB_2561766

      DOI: 10.1016/j.scr.2023.103149

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    sciencedirect.com/science/article/pii/S1873506123001356
  14. Mar 2023
  15. www.sciencedirect.com www.sciencedirect.com
    Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation
    1
    1. scibot 02 Mar 2023
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2023.103055

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    sciencedirect.com/science/article/pii/S1873506123000417
  16. Nov 2022
  17. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene
    1
    1. scibot 16 Nov 2022
      RRID: AB_2561766

      DOI: 10.1016/j.scr.2022.102975

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      Curator: @a5munoz

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    sciencedirect.com/science/article/pii/S1873506122003245
  18. Oct 2022
  19. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations
    1
    1. scibot 20 Oct 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102947

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    sciencedirect.com/science/article/pii/S1873506122002963
  20. Jul 2022
  21. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A
    1
    1. scibot 13 Jul 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102862

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    sciencedirect.com/science/article/pii/S1873506122002112
  22. Jun 2022
  23. www.sciencedirect.com www.sciencedirect.com
    Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10
    1
    1. scibot 08 Jun 2022
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2022.102831

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    sciencedirect.com/science/article/pii/S1873506122001805
  24. Mar 2022
  25. www.sciencedirect.com www.sciencedirect.com
    Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser)
    1
    1. scibot 25 Mar 2022
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2022.102759

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    sciencedirect.com/science/article/pii/S1873506122001088
  26. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)
    1
    1. scibot 23 Mar 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102756

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    sciencedirect.com/science/article/pii/S1873506122001052
  27. Feb 2022
  28. www.sciencedirect.com www.sciencedirect.com
    Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C
    1
    1. scibot 22 Feb 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102711

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    sciencedirect.com/science/article/pii/S1873506122000605
  29. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation
    2
    1. scibot 13 Feb 2022
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2022.102705

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    2. scibot 13 Feb 2022
      RRID:AB_2

      DOI: 10.1016/j.scr.2022.102705

      Resource: (BioLegend Cat# 653701, RRID:AB_2561766)

      Curator: @sophiastull

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      RRIDCUR:Unresolved RRID:AB_2561766
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    sciencedirect.com/science/article/pii/S187350612200054X
  30. www.sciencedirect.com www.sciencedirect.com
    Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome
    1
    1. scibot 04 Feb 2022
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2022.102699

      Resource: (BioLegend Cat# 653701, RRID:AB_2561766)

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    sciencedirect.com/science/article/pii/S1873506122000484
  31. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of a human induced pluripotent stem cell line (XWHNi001-A) derived from an Alzheimer's disease patient with mutation in the APP gene
    1
    1. scibot 02 Feb 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102690

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    sciencedirect.com/science/article/pii/S1873506122000393
  32. Jan 2022
  33. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (SJTUXHi002-A) from an individual with autism spectrum disorder carrying a heterozygous mutation in GRIA2
    1
    1. scibot 21 Jan 2022
      AB_2561766

      DOI: 10.1016/j.scr.2022.102676

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    sciencedirect.com/science/article/pii/S1873506122000253
  34. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion
    1
    1. scibot 04 Jan 2022
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2021.102634

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    sciencedirect.com/science/article/pii/S1873506121004815
  35. Dec 2021
  36. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC Line from a Patient with Early-onset Epileptic Encephalopathy Carrying CARS2 (p.G476R) Mutation
    1
    1. scibot 21 Dec 2021
      AB_2561766

      DOI: 10.1016/j.scr.2021.102633

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    sciencedirect.com/science/article/pii/S1873506121004803
  37. Aug 2021
  38. www.sciencedirect.com www.sciencedirect.com
    Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
    1
    1. scibot 16 Aug 2021
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2021.102502

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    sciencedirect.com/science/article/pii/S1873506121003494
  39. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cell, BCHSCTi001-A, derived from a Hemophilia A patient with F8 (p. R391C) mutation
    1
    1. scibot 15 Aug 2021
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2021.102491

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    sciencedirect.com/science/article/pii/S187350612100338X
  40. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 09 Aug 2021
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2018.11.013

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    sciencedirect.com/science/article/pii/S1873506118302824
  41. Jun 2021
  42. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A
    1
    1. scibot 17 Jun 2021
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2021.102428

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    sciencedirect.com/science/article/pii/S1873506121002750
  43. Apr 2021
  44. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
    1
    1. scibot 24 Apr 2021
      AB_2561766

      DOI: 10.1016/j.scr.2021.102359

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    sciencedirect.com/science/article/pii/S1873506121002051
  45. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations
    1
    1. scibot 09 Apr 2021
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2021.102330

      Resource: (BioLegend Cat# 653701, RRID:AB_2561766)

      Curator: @Naa003

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      RRIDCUR:Validated RRID:AB_2561766
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    sciencedirect.com/science/article/pii/S1873506121001768
  46. Nov 2020
  47. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation
    1
    1. scibot 24 Nov 2020
      AB_2561766

      DOI: 10.1016/j.scr.2020.102080

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      RRIDCUR:Validated RRID:AB_2561766
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    sciencedirect.com/science/article/pii/S1873506120303810
  48. Sep 2020
  49. www.sciencedirect.com www.sciencedirect.com
    Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome
    1
    1. scibot 09 Sep 2020
      RRID:AB_2561766

      DOI: 10.1016/j.scr.2020.101858

      Resource: (BioLegend Cat# 653701, RRID:AB_2561766)

      Curator: @ethanbadger

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      RRIDCUR:Validated RRID:AB_2561766
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    sciencedirect.com/science/article/pii/S1873506120301598
  50. Nov 2018
  51. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa
    1
    1. scibot 05 Nov 2018
      RRID:AB_2561766

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118301004