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Dual CRISPR/Cas9 correction of compound heterozygous MARS2 mutations in the iPSC line ISMMSi060-A from a patient with COXPD25.

Stem cell research - 1 Sept 2026

Liu Norman N, Baljinnyam Erdene, Hu Ruiqi, Salemi Sophia E, Webb Bryn D, Marro Samuele G

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Induced Pluripotent Stem Cells
CRISPR-Cas Systems
Mutation
Heterozygote
Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mitochondrial Proteins

Base Sequence

Cell Differentiation

Source

Identifiers

PMID: 42361764
DOI: 10.1016/j.scr.2026.104041

Genes

MARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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