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| Item Type: | Article |
|---|---|
| Title: | Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations |
| Creators Name: | Henke, M.T., Zink, A., Diecke, S., Prigione, A. and Schuelke, M. |
| Abstract: | We generated two pairs of mother-child iPSCs lines for Maternally Inherited Leigh Syndrome (MILS) carrying the m.8993 T > G and m.9176 T > G mutations in the MT-ATP6 gene. We delivered reprogramming factors OCT4, SOX2, KLF4, and c-MYC via Sendai virus. All iPSCs lines had a normal karyotype, expressed pluripotency markers, and differentiated into the three germ layers. Both patient-iPSCs retained the same degrees of heteroplasmy as their source fibroblasts (>97.0 %). In maternal iPSCs, the heteroplasmy remained 0.0 % in the case of the m.8993 T > G mutation and dropped from 55.0 % to 1.0 % in the case of m.9176 T > G mutation. |
| Keywords: | Cell Differentiation, Induced Pluripotent Stem Cells, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Mother-Child Relations, Mutation |
| Source: | Stem Cell Research |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 67 |
| Page Range: | 103030 |
| Date: | March 2023 |
| Official Publication: | https://doi.org/10.1016/j.scr.2023.103030 |
| PubMed: | View item in PubMed |
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