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

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

Stem Cell Research(2024)

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摘要
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 differentiation potential and normal karyotype, representing a valuable cell resource for studying the pathogenesis of mitochondrial diseases and screening drugs.
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