Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C)

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Item Type:	Article
Title:	Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C)
Creators Name:	Haschke, A.M., Diecke, S., Stachelscheid, H. and Schuelke, M.
Abstract:	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.
Keywords:	Cell Line, Cellular Reprogramming, Clone Cells, Fibroblasts, Induced Pluripotent Stem Cells, Mitochondrial Diseases, Mitochondrial Proton-Translocating ATPases, Mutation
Source:	Stem Cell Research
ISSN:	1873-5061
Publisher:	Elsevier
Volume:	86
Page Range:	103732
Date:	August 2025
Official Publication:	https://doi.org/10.1016/j.scr.2025.103732
PubMed:	View item in PubMed

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