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

Stem Cell Res. 2017 Aug:23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28.

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.

MeSH terms

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