Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.

Authors :: Ortuño-Costela MDC
Rodríguez-Mancera N
García-López M
Zurita-Díaz F
Moreno-Izquierdo A
Lucía A
Martín MÁ
Garesse R
Gallardo ME
Source :: Stem cell research [Stem Cell Res] 2017 Aug; Vol. 23, pp. 188-192. Date of Electronic Publication: 2017 Jul 28.
Publication Year :: 2017
Abstract: Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.<br /> (Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.)

Subjects :: Cell Line
Female
Glycogen Storage Disease Type V genetics
Humans
Induced Pluripotent Stem Cells metabolism
Kruppel-Like Factor 4
Mutation genetics
Reproducibility of Results
Cell Culture Techniques methods
Glycogen Storage Disease Type V pathology
Induced Pluripotent Stem Cells pathology

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