Article ; Online: 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.
2023 Volume 67, Page(s) 103030
Abstract: ... carrying the m.8993 T > G and m.9176 T > G mutations in the MT-ATP6 gene. We delivered reprogramming ... 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 ...
| 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. |
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| MeSH term(s) | Humans ; Leigh Disease/genetics ; Induced Pluripotent Stem Cells ; Mutation ; Mother-Child Relations ; Cell Differentiation ; Mitochondrial Proton-Translocating ATPases/genetics |
| Chemical Substances | MT-ATP6 protein, human ; Mitochondrial Proton-Translocating ATPases (EC 3.6.3.-) |
| Language | English |
| Publishing date | 2023-01-17 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2393143-7 |
| ISSN | 1876-7753 ; 1873-5061 |
| ISSN (online) | 1876-7753 |
| ISSN | 1873-5061 |
| DOI | 10.1016/j.scr.2023.103030 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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