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Article

Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene.

Stem cell research - 1 Jun 2024

Song Min, Chen Shuangshuang, Zhang Manna, Hu Shijun, Lei Wei, Yu Miao

Abstract excerpt

Mitochondrial diseases are disorders caused primarily by mutations in mitochondrial DNA, with the mitochondrial 3243A > G (m.3243A > G) mutation being one of the most common pathogenic mutations. Here, a pluripotent stem cell line with high m.3243A > G mutation load was generated by reprogramming the skin fibroblasts from a patient with mitochondrial disease. This cell line exhibited pluripotency, multilineage...

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Share to Cell Differentiation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38489977
DOI: 10.1016/j.scr.2024.103387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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