Dual CRISPR/Cas9 correction of compound heterozygous MARS2 mutations in the iPSC line ISMMSi060-A from a patient with COXPD25
Summary
We previously described the induced pluripotent stem cell (iPSC) line ISMMSi060-A derived from a patient with Combined Oxidative Phosphorylation Deficiency 25 (COXPD25) carrying compound heterozygous pathogenic variants in the mitochondrial methionyl-tRNA synthetase gene, MARS2. Here, we report the generation of the isogenic control line ISMMSi060-A-1 by CRISPR/Cas9-mediated correction of the MARS2 variants c.424C>T (p.Arg142Trp) and c.550C>T (p.Gln184*). The corrected line retained normal morphology, pluripotency, genomic integrity, and differentiation capacity, providing a valuable resource to study MARS2-related mitochondrial dysfunction and therapeutic strategies for COXPD25. Copyright © 2026. Published by Elsevier B.V.
| Authors | Liu NN, Baljinnyam E, Hu R, Salemi SE, Webb BD, Marro SG |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 19;95:104041 |
| PubMed | 42361764 |
| DOI | 10.1016/j.scr.2026.104041 |