Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Summary

Heteroplasmy in patients affected with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) offers a chance to harvest specific cells which might have a very low or no mutation load of the mitochondrial DNA. Here we demonstrate establishment of induced pluripotent stem cells (iPSC) cell lines (with normal mitochondrial DNA copies), from unaffected tissues of a male patient with MELAS harbouring m.3243A > G mutations. This platform allowed us to compare specific pathway differences between the cells of the affected tissues of the patients and their isogenic counterparts derived from iPSCs, which do not harbour the mutations. 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 Aug 3;48:101935
PubMed 32777772
DOI 10.1016/j.scr.2020.101935

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