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Article

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene.

Stem cell research - 1 Oct 2020

Sequiera Glen Lester, Rockman-Greenberg Cheryl, Dhingra Sanjiv

Abstract excerpt

Within the umbrella of mitochondrial disorders, Leigh's disease is characterised as a rarer form with more than 80 genetic and mitochondrial DNA aberration variants. Here we report establishment of an induced pluripotent stem cell (iPSC) line from a 2.5 years old deceased female child, harbouring mutations in the NDUFV1 gene. One of the variants reported here is novel. The establishment of iPSC line allows...

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Identifiers

PMID: 32871395
DOI: 10.1016/j.scr.2020.101964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene.PMID 32871395Read ↗

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