Generation of Patient-Derived iPSC Lines from a Girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) Caused by Compound Heterozygous GTPBP3 Variants

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COXPD23 caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBMCs of a sibling with the compound heterozygous variants in GTPBP3: c.1289G>A; c.545G>A were reprogrammed into iPSC lines using non-integrative Sendai virus.
[Stem Cell Research]
Abstract