Stem Cell Research ( IF 1.2 ) Pub Date : 2020-07-15 , DOI: 10.1016/j.scr.2020.101912 Yanmin Zhang 1 , Jie Wang 2 , Yafei Zhou 2 , Huan Li 3 , Anmao Li 2 , Xiaoqiu Tan 4 , Guoxia Wang 2 , Ming Lei 5
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.