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Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a 14 year-old boy and his mother using same protocols. Diagnosis of combined oxidative phosphorylation deficiency (COXPD) was established after identifying a homozygous c.823C > T(p.L275F) variant in C1QBP gene carried by the boy, inherited from his asymptomatic consanguineous parents carrying this heterozygous variant. PBMCs were reprogrammed using non-integrative sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry C1QBP-L275F mutation, have a normal karyotype. These lines are useful tools for studying the pathophysiological mechanism of COXPD.

Original publication




Journal article


Stem Cell Res

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