Generation and characterization of a human induced pluripotent stem cell line (SNUi001-A) harboring the MT-ND4 m.11778G>A mutation
Summary
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. Copyright © 2026. Published by Elsevier B.V.
| Authors | Choi HJ, Im YS, Yoon T, Min SH, Song JR, Jung JH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 20;95:104043 |
| PubMed | 42335579 |
| DOI | 10.1016/j.scr.2026.104043 |