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

Stem cell research - 1 Aug 2025

Haschke Anna Maria, Diecke Sebastian, Stachelscheid Harald, Schuelke Markus

Abstract excerpt

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...

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Identifiers

PMID: 40367733
DOI: 10.1016/j.scr.2025.103732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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