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

作者：Chunli Wang, Chang Yuan, Zhaoming Ji, Jie Yin, Zhongman Zhang, Han Zhang, Bixia Zheng, Wei Zhou, Shiwei Yang · 发表于：Stem Cell Research · 年份：2022 · DOI：10.1016/j.scr.2022.102775 · 被引用次数：6 · 研究领域：Metabolism and Genetic Disorders、Mitochondrial Function and Pathology、RNA modifications and cancer

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.