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  1. Apr 2024
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene
    1
    1. scibot 23 Apr 2024
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2024.103423

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @scibot

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      RRID:AB_1279447
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    sciencedirect.com/science/article/pii/S1873506124001211
  3. Feb 2024
  4. www.sciencedirect.com www.sciencedirect.com
    Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient
    1
    1. scibot 15 Feb 2024
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2024.103334

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

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    sciencedirect.com/science/article/pii/S1873506124000321
  5. Oct 2023
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (ZJUi013-A) from a Familial cortical myoclonic tremor with epilepsy type 1 patient carrying (TTTCA)n insertion in the SAMD12 gene
    1
    1. scibot 27 Oct 2023
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2023.103236

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

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      RRID:AB_1279447
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    sciencedirect.com/science/article/pii/S1873506123002222
  7. Aug 2023
  8. www.sciencedirect.com www.sciencedirect.com
    Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts
    1
    1. scibot 18 Aug 2023
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2023.103178

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

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    sciencedirect.com/science/article/pii/S1873506123001642
  9. Jul 2022
  10. www.sciencedirect.com www.sciencedirect.com
    Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg
    1
    1. scibot 13 Jul 2022
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2022.102863

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

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    sciencedirect.com/science/article/pii/S1873506122002124
  11. May 2022
  12. www.sciencedirect.com www.sciencedirect.com
    Generation of a MIR5004 knockout cell line from human induced Pluripotent Stem Cells by CRISPR/Cas9 gene editing
    1
    1. scibot 05 May 2022
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2022.102805

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

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    sciencedirect.com/science/article/pii/S1873506122001544
  13. Dec 2020
  14. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual
    1
    1. scibot 17 Dec 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.102127

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @Naa003

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      RRID:AB_1279447 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506120304281
  15. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual
    1
    1. scibot 17 Dec 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.102116

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @Naa003

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      RRID:AB_1279447 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506120304177
  16. Nov 2020
  17. www.sciencedirect.com www.sciencedirect.com
    Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A)
    1
    1. scibot 11 Nov 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.102079

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @Naa003

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      RRIDCUR:Validated RRID:AB_1279447
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    sciencedirect.com/science/article/pii/S1873506120303809
  18. Oct 2020
  19. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (AKOSi006-A) from fibroblasts of a NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182T>C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system
    1
    1. scibot 20 Oct 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.102056

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @Naa003

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      RRIDCUR:Validated RRID:AB_1279447
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    sciencedirect.com/science/article/pii/S1873506120303573
  20. Sep 2020
  21. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
    1
    1. scibot 08 Sep 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.101708

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @ethanbadger

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      RRID:AB_1279447 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506120300106
  22. www.sciencedirect.com www.sciencedirect.com
    Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis
    1
    1. scibot 05 Sep 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2020.101713

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @ethanbadger

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      RRIDCUR:Validated RRID:AB_1279447
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    sciencedirect.com/science/article/pii/S1873506120300155
  23. Jan 2020
  24. www.sciencedirect.com www.sciencedirect.com
    Generation of the Niemann-Pick Type C2 patient-derived iPSC line AKOSi001-A
    1
    1. scibot 13 Jan 2020
      RRID:AB_1279447

      DOI: 10.1016/j.scr.2019.101606

      Resource: (BioLegend Cat# 330609, RRID:AB_1279447)

      Curator: @ethanbadger

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      RRID:AB_1279447 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506119302363