Mitochondrial DNA sequencing

HeLa cells were employed as recipient cells for mitochondrial transplantation. U2OS cells, serving as mitochondrial donors, possess a defined and homogeneous mtDNA haplogroup.

Deep sequencing of the mitochondrial genome was performed, and donor-derived mtDNA was unequivocally distinguished from recipient mtDNA by tracking donor-specific SNP alleles. To investigate the potential for functional rescue, human fibroblast derived from patients harboring a high level m.3243A>G mutation and GMO4516 cell harboring a pathogenic, approximately 7.3 kb deletion in mitochondrial genome were treated with mitochondrial capsules generated from wild-type human skin fibroblast GZF2.