Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C)
Summary
iPSC-based models are valuable for studying the mechanisms and potential treatments of mitochondrial disorders. We generated two iPSC lines from fibroblasts of a patient with a novel MT-ATP6/8 mutation (m.8570 T > C). The infant was diagnosed with a mitochondrial disease featuring cardiac hypertrophy, brain atrophy, developmental delay, and metabolic crises with elevated lactate. Mutation heteroplasmy in blood leukocytes was 95 %. Leigh syndrome-like cranial MRI abnormalities were absent at 4 months of age. We introduced reprogramming factors by Sendai virus and assessed the pluripotency of the resulting iPSCs. As control iPSC-line, we characterized the CRMi004-A line from the RUCDR repository. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Haschke AM, Diecke S, Stachelscheid H, Schuelke M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 May 8;86:103732 |
| PubMed | 40367733 |
| DOI | 10.1016/j.scr.2025.103732 |