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

Lorenz, C.; Zink, A.; Henke, M.T.; Staege, S.; Mlody, B.; Bünning, M.; Wanker, E.; Diecke, S.; Schuelke, M.; Prigione, A.

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:	Lorenz, C. ORCID: https://orcid.org/0000-0002-7762-8133, Zink, A. ORCID: https://orcid.org/0000-0002-8489-6339, Henke, M.T. ORCID: https://orcid.org/0000-0001-6572-1667, Staege, S., Mlody, B. ORCID: https://orcid.org/0000-0001-5184-1772, Bünning, M., Wanker, E. ORCID: https://orcid.org/0000-0001-8072-1630, Diecke, S. ORCID: https://orcid.org/0000-0002-5219-5992, Schuelke, M. ORCID: https://orcid.org/0000-0003-2824-3891 and Prigione, A. ORCID: https://orcid.org/0000-0001-9457-1952
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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