27 Matching Annotations
  1. Jun 2023
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A)
    1
    1. scibot 09 Jun 2023
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2023.103127

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    sciencedirect.com/science/article/pii/S1873506123001137
  3. Nov 2022
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    Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient
    1
    1. scibot 03 Nov 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102955

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    sciencedirect.com/science/article/pii/S187350612200304X
  5. Jul 2022
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of Human Induced Pluripotent Stem Cell Lines SPPHIi003-A and SPPHIi004-A from Two Patients with Sporadic Alzheimer’s Disease in Southwestern China
    1
    1. scibot 30 Jul 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102876

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    sciencedirect.com/science/article/pii/S1873506122002252
  7. May 2022
  8. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia
    1
    1. scibot 12 May 2022
      RRID: AB_2727952

      DOI: 10.1016/j.scr.2022.102811

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    sciencedirect.com/science/article/pii/S187350612200160X
  9. Mar 2022
  10. www.sciencedirect.com www.sciencedirect.com
    Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants
    1
    1. scibot 31 Mar 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102775

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    sciencedirect.com/science/article/pii/S1873506122001246
  11. Feb 2022
  12. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old Chinese boy with Keipert Syndrome
    2
    1. scibot 11 Feb 2022
      RRID: AB_2737952

      DOI: 10.1016/j.scr.2022.102706

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    2. scibot 11 Feb 2022
      RRID: AB_2737952

      DOI: 10.1016/j.scr.2022.102706

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    sciencedirect.com/science/article/pii/S1873506122000551
  13. Jan 2022
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    Generation of an induced pluripotent stem cell line (GWCMCi005-A) from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter mutation
    1
    1. scibot 21 Jan 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102667

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    sciencedirect.com/science/article/pii/S1873506122000162
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    Establishment of SIAISi017-A, an induced pluripotent stem cell(iPSC)line from a healthy 25-year-old Chinese Hui
    1
    1. scibot 21 Jan 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102645

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    sciencedirect.com/science/article/pii/S187350612100492X
  16. www.sciencedirect.com www.sciencedirect.com
    Establishment of SIAISi018-A, an induced pluripotent stem cell (iPSC) line from a healthy 45-year-old Chinese Han
    1
    1. scibot 14 Jan 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102659

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    sciencedirect.com/science/article/pii/S1873506122000083
  17. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C>G (p.L266V) in MAPT
    1
    1. scibot 04 Jan 2022
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2022.102654

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    sciencedirect.com/science/article/pii/S1873506122000034
  18. Nov 2021
  19. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2
    1
    1. scibot 02 Nov 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102589

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    sciencedirect.com/science/article/pii/S1873506121004360
  20. Oct 2021
  21. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked Mental retardation syndrome carrying HNRNPH2 gene mutation
    1
    1. scibot 26 Oct 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102571

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    sciencedirect.com/science/article/pii/S1873506121004189
  22. Sep 2021
  23. www.sciencedirect.com www.sciencedirect.com
    Establishment of TUSMi009-A, an induced pluripotent stem cell（Ipsc)line from a 24-year-old Chinese Han patient with gliocytoma
    1
    1. scibot 21 Sep 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102546

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    sciencedirect.com/science/article/pii/S1873506121003937
  24. Aug 2021
  25. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells(iPSCs) from an Chinese infant(XACHi015-A) with a Type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2
    1
    1. scibot 20 Aug 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102509

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    sciencedirect.com/science/article/pii/S1873506121003561
  26. May 2021
  27. www.sciencedirect.com www.sciencedirect.com
    Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G>A (p.W392X) variants and two iPSC lines from the parents (XACHi013-A, XACHi014-A)
    1
    1. scibot 12 May 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102391

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    sciencedirect.com/science/article/pii/S1873506121002373
  28. Apr 2021
  29. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 Syndrome and of an iPSC line (SHCMDLi002-A) from a control individual
    1
    1. scibot 30 Apr 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102377

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    sciencedirect.com/science/article/pii/S1873506121002233
  30. Mar 2021
  31. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations
    1
    1. scibot 13 Mar 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102286

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    sciencedirect.com/science/article/pii/S187350612100132X
  32. Feb 2021
  33. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation
    1
    1. scibot 11 Feb 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102224

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    sciencedirect.com/science/article/pii/S1873506121000702
  34. Jan 2021
  35. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line ZZUNEUi019-A from a five-year-old Chinese girl with Susceptibility to idiopathic generalized epilepsy-15
    1
    1. scibot 20 Jan 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2021.102177

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    sciencedirect.com/science/article/pii/S1873506121000234
  36. www.sciencedirect.com www.sciencedirect.com
    Generation of Two Induced Pluripotent Stem Cell Lines SPPHi001-A and SPPHi002-A from a Huntington’s Disease Family of Southwestern China
    1
    1. scibot 05 Jan 2021
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2020.102149

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    sciencedirect.com/science/article/pii/S1873506120304505
  37. Sep 2020
  38. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T>G in LAMP2 gene
    1
    1. scibot 25 Sep 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2020.101994

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    sciencedirect.com/science/article/pii/S1873506120302956
  39. www.sciencedirect.com www.sciencedirect.com
    Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1gene
    1
    1. scibot 15 Sep 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2020.101798

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S187350612030101X
  40. www.sciencedirect.com www.sciencedirect.com
    Generation of two induced pluripotent stem cell lines (XACHi0010-A, XACHi0011-A) from a Chinese family with combined oxidative phosphorylation deficiency carrying homozygous and heterozygous C1QBP-L275F mutation
    1
    1. scibot 07 Sep 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2020.101912

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    sciencedirect.com/science/article/pii/S1873506120302130
  41. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene
    1
    1. scibot 05 Sep 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2020.101711

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506120300131
  42. Jan 2020
  43. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A
    1
    1. scibot 13 Jan 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2019.101509

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      Curator: @ethanbadger

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      RRID:AB_2737952 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506119301394
  44. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene
    1
    1. scibot 13 Jan 2020
      RRID:AB_2737952

      DOI: 10.1016/j.scr.2019.101621

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      RRID:AB_2737952 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S187350611930251X