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236 Matching Annotations

Jan 2020
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Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/− and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)

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  DOI: 10.1016/j.scr.2019.101653
  
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sciencedirect.com/science/article/pii/S1873506119302831
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Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length

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  DOI: 10.1016/j.scr.2019.101515
  
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sciencedirect.com/science/article/pii/S187350611930145X
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Generation of six induced pluripotent stem cell (iPSC) lines from two patients with amyotrophic lateral sclerosis (NUIGi043-A, NUIGi043-B, NUIGi043-C, NUIGi044-A, NUIGi044-B, NUIGi044-C)

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  DOI: 10.1016/j.scr.2019.101558
  
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sciencedirect.com/science/article/pii/S1873506119301886
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Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual

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  DOI: 10.1016/j.scr.2019.101531
  
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sciencedirect.com/science/article/pii/S1873506119301618
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Generation of two tdTomato reporter induced pluripotent stem cell lines (NHLBIi003-A-1 and NHLBIi003-A-2) by AAVS1 safe harbor gene-editing

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  DOI: 10.1016/j.scr.2019.101673
  
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sciencedirect.com/science/article/pii/S1873506119303034
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Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.

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  DOI: 10.1016/j.scr.2019.101626
  
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sciencedirect.com/science/article/pii/S1873506119302569
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An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

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  DOI: 10.1016/j.scr.2019.101579
  
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sciencedirect.com/science/article/pii/S1873506119302090
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Generation and characterization of three clones (NCCSi007A, NCCSi007B and NCCSi007C) of an integration free induced Pluripotent Stem Cell line from a patient with alcoholic liver cirrhosis of Indian ethnicity

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  DOI: 10.1016/j.scr.2019.101678
  
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sciencedirect.com/science/article/pii/S1873506119303083
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Generation of human iPS cell line IBCHi001-A from dentatorubral–pallidoluysian atrophy patient's fibroblasts

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  DOI: 10.1016/j.scr.2019.101512
  
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sciencedirect.com/science/article/pii/S1873506119301424
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Generation of two induced pluripotent stem cell lines (NHLBIi001-A and NHLBIi001-B) from a healthy Caucasian female volunteer with normal cardiac function

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  DOI: 10.1016/j.scr.2019.101627
  
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sciencedirect.com/science/article/pii/S1873506119302570
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Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B)

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  DOI: 10.1016/j.scr.2019.101502
  
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sciencedirect.com/science/article/pii/S1873506119301321
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Untitled document

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  DOI: 10.1016/j.scr.2018.101374
  
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sciencedirect.com/science/article/pii/S187350611830309X
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An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene

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  DOI: 10.1016/j.scr.2019.101461
  
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sciencedirect.com/science/article/pii/S1873506119300911
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Untitled document

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  DOI: 10.1016/j.scr.2018.11.017
  
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sciencedirect.com/science/article/pii/S1873506118302861
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  DOI: 10.1016/j.scr.2019.101414
  
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sciencedirect.com/science/article/pii/S1873506119300443
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  DOI: 10.1016/j.scr.2018.101372
  
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sciencedirect.com/science/article/pii/S1873506118303076
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  DOI: 10.1016/j.scr.2019.101435
  
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sciencedirect.com/science/article/pii/S1873506119300650
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Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying hemizygous 208insC mutations in the IDS gene

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1. scibot 12 Jan 2020
  
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  DOI: 10.1016/j.scr.2019.101451
  
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sciencedirect.com/science/article/pii/S1873506119300819
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  DOI: 10.1016/j.scr.2019.101396
  
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sciencedirect.com/science/article/pii/S1873506119300261
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sciencedirect.com/science/article/pii/S1873506119300662
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  DOI: 10.1016/j.scr.2019.101450
  
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sciencedirect.com/science/article/pii/S1873506119300807
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sciencedirect.com/science/article/pii/S1873506119300571
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Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

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1. scibot 12 Jan 2020
  
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  DOI: 10.1016/j.celrep.2019.01.028
  
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sciencedirect.com/science/article/pii/S2211124719300373
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  DOI: 10.1016/j.scr.2019.101408
  
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sciencedirect.com/science/article/pii/S1873506119300388
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sciencedirect.com/science/article/pii/S1873506118302629
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sciencedirect.com/science/article/pii/S1873506118302551
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sciencedirect.com/science/article/pii/S1873506118302423
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sciencedirect.com/science/article/pii/S1873506118301831
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Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives

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sciencedirect.com/science/article/pii/S1873506118301855
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Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype

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sciencedirect.com/science/article/pii/S187350611830179X
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Generation of an integration-free iPSC line (CSCRi005-A) from erythroid progenitor cells of a healthy Indian male individual

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1. scibot 05 Nov 2018
  
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sciencedirect.com/science/article/pii/S1873506118300989
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Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

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1. scibot 05 Nov 2018
  
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sciencedirect.com/science/article/pii/S1873506118300898
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Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

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  (Cell Signaling Technology Cat# 4755, RRID:AB_1264259)
  
  SciCrunch record: RRID:AB_1264259
  
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  RRID:AB_1264259
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RRID:AB_1264259

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scibot

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sciencedirect.com/science/article/pii/S1934590917303703
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Derivation and characterization of integration-free iPSC line ISRM-UM51 derived from SIX2-positive renal cells isolated from urine of an African male expressing the CYP2D6 *4/*17 variant which confers intermediate drug metabolizing activity

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:AB_1264259
  
  Curator: @evieth
  
  Resource used:
  
  (Cell Signaling Technology Cat# 4755, RRID:AB_1264259)
  
  SciCrunch record: RRID:AB_1264259
  
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  RRID:AB_1264259 RRIDCUR:Validated
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RRIDCUR:Validated

RRID:AB_1264259

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scibot

URL

sciencedirect.com/science/article/pii/S187350611730209X
Nov 2017
www.sciencedirect.com www.sciencedirect.com

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

1
1. scibot 08 Nov 2017
  
  in Public
  
  Cell Signaling Technology Cat#MC813
  
  Curator: @Jmenke
  
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  (Cell Signaling Technology Cat# 4755, RRID:AB_1264259)
  
  SciCrunch record: RRID:AB_1264259
  
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  RRID:AB_1264259 RRIDCUR:Missing
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RRIDCUR:Missing

RRID:AB_1264259

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scibot

URL

sciencedirect.com/science/article/pii/S1873506117301587