Hypothesis

33 Matching Annotations

May 2025
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Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene

1
1. scibot 18 May 2025
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2025.103730
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506125000807
Mar 2024
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2024.103379
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506124000771
Mar 2023
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2023.103068
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506123000545
Jan 2023
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2023.103016
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506123000028
Aug 2022
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2022.102903
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506122002525
Jul 2022
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2022.102856
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506122002057
Jul 2021
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Untitled document

1
1. scibot 31 Jul 2021
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2019.101447
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506119300777
Jun 2021
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2021.102416
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506121002622
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2021.102419
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506121002658
Feb 2021
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2021.102190
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
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sciencedirect.com/science/article/pii/S1873506121000362
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.102032
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506120303330
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.102031
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506120303329
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.101795
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @scibot
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506120300982
Oct 2020
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.102028
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @Naa003
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012 RRIDCUR:Validated
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RRID:AB_2651012

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scibot

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sciencedirect.com/science/article/pii/S1873506120303299
Sep 2020
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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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.101837
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506120301380
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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.101795
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRIDCUR:Validated RRID:AB_2651012
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scibot

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sciencedirect.com/science/article/pii/S1873506120300982
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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.101734
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRIDCUR:Validated RRID:AB_2651012
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scibot

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sciencedirect.com/science/article/pii/S1873506120300386
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
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2020.101784
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRIDCUR:Validated RRID:AB_2651012
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scibot

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sciencedirect.com/science/article/pii/S1873506120300878
Jan 2020
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 13 Jan 2020
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2019.101422
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506119300522
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 13 Jan 2020
  
  in Public
  
  RRID:AB_2651012
  
  DOI: 10.1016/j.scr.2019.101432
  
  Resource: (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506119300625
Nov 2018
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506118302435
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506118302307
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Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506118301065
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
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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RRID:AB_2651012

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scibot

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sciencedirect.com/science/article/pii/S1873506118300977
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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
  
  in Public
  
  RRID: AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012
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sciencedirect.com/science/article/pii/S1873506118300400
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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
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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scibot

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sciencedirect.com/science/article/pii/S1873506118300333
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
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506118300321
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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
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506117302726
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_2651012
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
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sciencedirect.com/science/article/pii/S1873506117302283
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Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @evieth
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506117302295
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
  
  in Public
  
  RRID:AB_2651012
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012
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sciencedirect.com/science/article/pii/S1873506117302106
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
  
  in Public
  
  RRID:AB_2651012
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
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  RRID:AB_2651012
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sciencedirect.com/science/article/pii/S1873506117302222
Nov 2017
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
  
  in Public
  
  RRID:AB_2651012
  
  Curator: @Jmenke
  
  Resource used:
  
  (Thermo Fisher Scientific Cat# A25533, RRID:AB_2651012)
  
  SciCrunch record: RRID:AB_2651012
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
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  RRID:AB_2651012 RRIDCUR:Validated
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sciencedirect.com/science/article/pii/S1873506117301897