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

从患有 McArdle 病且携带突变 c.2392 T > C; p.Trp798Arg 的患者的外周血单核细胞中生成 iPSC 系 IISHDOi007-A

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

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.

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