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 (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C > T; p.Gln184* and c.424C > T; p.Arg142Trp in MARS2. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.
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| http://dx.doi.org/10.1016/j.scr.2025.103662 | DOI Listing |
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