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., Zink, A., Henke, M.T., Staege, S., Mlody, B., Bünning, M., Wanker, E., Diecke, S., 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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