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

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

Stem Cell Research (Mar 2025)

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

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

Affiliations

Sophia E. Salemi: Division of Genetics and Metabolism – Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin – School of Medicine and Public Health, USA
Erdene Baljinnyam: Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Norman N. Liu: Division of Genetics and Metabolism – Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin – School of Medicine and Public Health, USA
Ruiqi Hu: Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Samuele G. Marro: Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Bryn D. Webb: Division of Genetics and Metabolism – Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin – School of Medicine and Public Health, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Corresponding author.

Journal volume & issue: Vol. 83
p. 103662

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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Abstract

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