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| Item Type: | Article |
|---|---|
| Title: | Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy |
| Creators Name: | Haschke, A.M., Diecke, S. and Schuelke, M. |
| Abstract: | Human-derived experimental systems such as induced pluripotent stem cell (iPSC)-derived models are useful tools to study mechanisms and potential therapeutic approaches for mitochondrial disorders. Here, we generated two iPSC lines from fibroblasts of patients carrying mutations at MT-ATP6 (m.8993 T>G). One patient with 96 % heteroplasmy suffered from Neuropathy, Ataxia, and Retinitis pigmentosa (NARP) syndrome, while the other patient with a homoplasmic mutation suffered from Maternally Inherited Leigh Syndrome (MILS). For reprogramming, we delivered reprogramming factors using Sendai virus and evaluated the pluripotency characteristics of the derived iPSCs. The degree of heteroplasmy remained stable after reprogramming. |
| Keywords: | Ataxia, Cell Line, Heteroplasmy, Induced Pluripotent Stem Cells, Leigh Disease, Mitochondrial Myopathies, Mitochondrial Proton-Translocating ATPases, Mutation, Retinitis Pigmentosa |
| Source: | Stem Cell Research |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 81 |
| Page Range: | 103547 |
| Date: | December 2024 |
| Official Publication: | https://doi.org/10.1016/j.scr.2024.103547 |
| PubMed: | View item in PubMed |
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