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Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.

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Item Type:Article
Title:Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.
Creators Name:Lorenz, C. and Zink, A. and Henke, M.T. and Staege, S. and Mlody, B. and Bünning, M. and Wanker, E. and Diecke, S. and Schuelke, M. and Prigione, A.
Abstract:We report the generation of four human iPSC lines (8993-A12, 8993-B12, 8993-C11, and 8993-D7) from fibroblasts of four patients affected by maternally inherited Leigh syndrome (MILS) carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6. We used Sendai viruses to deliver reprogramming factors OCT4, SOX2, KLF4, and c-MYC. The established iPSC lines expressed pluripotency markers, exhibited a normal karyotype, were capable to form cells of the three germ layers in vitro, and retained the MT-ATP6 mutations at the same homoplasmic level of the parental fibroblasts.
Keywords:Fibroblasts, Mitochondrial Genes, Induced Pluripotent Stem Cells, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Mutation / Genetics
Source:Stem Cell Research
ISSN:1873-5061
Publisher:Elsevier
Volume:61
Page Range:102742
Date:May 2022
Official Publication:https://doi.org/10.1016/j.scr.2022.102742
PubMed:View item in PubMed

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