Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg

Stem Cell Res. 2020 Dec:49:102108. doi: 10.1016/j.scr.2020.102108. Epub 2020 Dec 3.

Abstract

Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. For the delivery of the reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc, a non-integrative methodology that implies the use of Sendai virus has been applied.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Glycogen Storage Disease Type V*
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear
  • Mutation / genetics

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4