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.
Item Type: | Article |
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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. |
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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. |
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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. |
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Keywords: | Fibroblasts, Mitochondrial Genes, Induced Pluripotent Stem Cells, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Mutation / Genetics |
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Source: | Stem Cell Research |
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ISSN: | 1873-5061 |
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Publisher: | Elsevier |
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Volume: | 61 |
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Page Range: | 102742 |
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Date: | May 2022 |
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Official Publication: | https://doi.org/10.1016/j.scr.2022.102742 |
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PubMed: | View item in PubMed |
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