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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Principais autores:	Sophia E. Salemi, Erdene Baljinnyam, Norman N. Liu, Ruiqi Hu, Samuele G. Marro, Bryn D. Webb
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-03-01
Colecção:	Stem Cell Research
Assuntos:	MARS2 Mitochondrial aminoacyl-tRNA synthetase Combined oxidative phosphorylation deficiency
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1873506125000121
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