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Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25

We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (MARS2), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells...

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主要な著者: Sophia E. Salemi, Erdene Baljinnyam, Norman N. Liu, Ruiqi Hu, Samuele G. Marro, Bryn D. Webb
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2025-03-01
シリーズ:Stem Cell Research
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オンライン・アクセス:http://www.sciencedirect.com/science/article/pii/S1873506125000121
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