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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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