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


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 development of a stable disease model for the specific variations, as there are no other cell/animal disease models for the same. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sequiera GL, Rockman-Greenberg C, Dhingra S
Journal Stem cell research
Publication Date 2020 Oct;48:101964
PubMed 32871395
DOI 10.1016/j.scr.2020.101964

Research Projects

Cell Lines