Stem Cell Research (Dec 2020)

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

  • Victoria Cerrada,
  • Marta García-López,
  • Sofía Alvarez-Galeano,
  • Ana Moreno-Izquierdo,
  • Alejandro Lucia,
  • María Rabasa Pérez,
  • Joaquín Arenas,
  • M. Esther Gallardo

Journal volume & issue
Vol. 49
p. 102108

Abstract

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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.