Generation of two induced pluripotent stem cell lines (XACHi0010-A, XACHi0011-A) from a Chinese family with combined oxidative phosphorylation deficiency carrying homozygous and heterozygous C1QBP-L275F mutation.
Zhang Y., Wang J., Zhou Y., Li H., Li A., Tan X., Wang G., Lei M.
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.