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Impact of Mitochondrial A3243G Mutation on Skeletal Muscle Energy Metabolism: Evidence from Human Induced Pluripotent Stem Cell-Derived Skeletal Muscle Cells.

Stem cells and development - 1 Aug 2025

Oikawa Ritsuko, Yokota Kenichi, Fujikura Junji, Uchimura Tomoya, Miyashita Kazutoshi, Hayashi Kaori, Sakurai Hidetoshi, Sone Masakatsu

Abstract excerpt

The study of skeletal muscle disorders in patients with mitochondrial diseases is crucial for gaining insights into disease physiology; however, their molecular mechanisms have not been fully elucidated. We previously established human-induced pluripotent stem (iPS) cells in two patients with the mitochondrial DNA (mtDNA) A3243G mutation and isolated iPS cell clones with either undetectable or high levels of...

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PMID: 40667770
DOI: 10.1177/15473287251359330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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