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
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang Y, Wang J, Zhou Y, Li H, Li A, Tan X, Wang G, Lei M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul 15;47:101912 |
| PubMed | 32707487 |
| DOI | 10.1016/j.scr.2020.101912 |