Stem Cell Res. 2026 Jun 20;95:104043. doi: 10.1016/j.scr.2026.104043. Online ahead of print.
ABSTRACT
Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA. To facilitate disease modeling and the investigation of pathogenetic mechanisms, we generated an induced pluripotent stem cell (iPSC) line, SNUi001-A, derived from the peripheral blood mononuclear cells (PBMCs) of a patient carrying the m.11778G>A mutation in the MT-ND4 gene. The iPSCs were generated using non-integrating episomal vectors. These reprogrammed cells maintained the patient-specific mutation, expressed key pluripotency markers, and demonstrated the potential for multilineage differentiation into all three germ layers.
PMID:42335579 | DOI:10.1016/j.scr.2026.104043