Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants


Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBMCs of sibling with the compound heterozygous variants in GTPBP3 (NM_133644): c.1289G>A(p.Cys430Tyr); c.545G>A(p.Gly182Glu) were reprogrammed into induced pluripotent stemcell (iPSC) lines (DPNJMUi001-A.) using non-integrative Sendai virus. The COXPD23 iPSC lines present normal karyotypes, high expression of pluripotency markers and the capacity to differentiate into cells of all three germ layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang C, Yuan C, Ji Z, Yin J, Zhang Z, Zhang H, Zheng B, Zhou W, Yang S
Journal Stem cell research
Publication Date 2022 May;61:102775
PubMed 35413567
DOI 10.1016/j.scr.2022.102775

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