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  1. Last 7 days
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    Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
    1
    1. scibot 19 Jul 2024
      AB_2889887

      DOI: 10.1016/j.scr.2024.103491

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506124001892
  3. Apr 2024
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    Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
    1
    1. scibot 04 Apr 2024
      AB_2889887

      DOI: 10.1016/j.scr.2024.103411

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506124001090
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    Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
    2
    1. scibot 02 Apr 2024
      AB_2889887

      DOI: 10.1016/j.scr.2024.103410

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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      RRID:AB_2889887
    2. scibot 02 Apr 2024
      AB_2889887

      DOI: 10.1016/j.scr.2024.103410

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506124001089
  6. May 2023
  7. www.sciencedirect.com www.sciencedirect.com
    Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
    1
    1. scibot 10 May 2023
      RRID:AB_2889887

      DOI: 10.1016/j.scr.2023.103117

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506123001034
  8. Nov 2022
  9. www.sciencedirect.com www.sciencedirect.com
    Generation of Parkinson’s disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene
    1
    1. scibot 03 Nov 2022
      AB_2889887

      DOI: 10.1016/j.scr.2022.102959

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506122003087
  10. Oct 2022
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    Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson’s disease carrying a R159W mutation in the GBA gene
    1
    1. scibot 20 Oct 2022
      AB_2889887

      DOI: 10.1016/j.scr.2022.102948

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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    sciencedirect.com/science/article/pii/S1873506122002975
  12. Sep 2022
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    Generation of the human erythroblast-derived iPSC line UBTi001-A
    1
    1. scibot 08 Sep 2022
      RRID:AB_2889887

      DOI: 10.1016/j.scr.2022.102910

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506122002598
  14. Jun 2022
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    Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C>T (p.Arg39Ter) variant in the ACTA1 gene
    1
    1. scibot 09 Jun 2022
      AB_2889887

      DOI: 10.1016/j.scr.2022.102830

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506122001799
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    Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C>A (p.Ala172Glu) variant in the ACTA1 gene
    1
    1. scibot 09 Jun 2022
      AB_2889887

      DOI: 10.1016/j.scr.2022.102829

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

      SciCrunch record: RRID:AB_2889887

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506122001787
  17. Feb 2022
  18. 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
    1
    1. scibot 13 Feb 2022
      RRID:AB_2889887

      DOI: 10.1016/j.scr.2022.102705

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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      RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S187350612200054X
  19. Apr 2021
  20. www.sciencedirect.com www.sciencedirect.com
    Generation of disease-specific and CRISPR/Cas9-mediated gene-corrected iPS cells from a patient with adult progeria Werner syndrome
    1
    1. scibot 24 Apr 2021
      RRID:AB_2889887

      DOI: 10.1016/j.scr.2021.102360

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @scibot

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    sciencedirect.com/science/article/pii/S1873506121002063
  21. Feb 2021
  22. www.sciencedirect.com www.sciencedirect.com
    Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C>A (p.Arg183Ser) variant in the ACTA1 gene
    1
    1. scibot 27 Feb 2021
      Anti-human Otx-2 NL557-conjugated goat IgG

      DOI: 10.1016/j.scr.2021.102273

      Resource: (R and D Systems Cat# SC022, RRID:AB_2889887)

      Curator: @Naa003

      SciCrunch record: RRID:AB_2889887

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      RRIDCUR:Missing RRID:AB_2889887
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    sciencedirect.com/science/article/pii/S1873506121001197