Bibliographic Details
| 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 |
| Authors: |
Anna Maria Haschke, Sebastian Diecke, Markus Schuelke |
| Source: |
Stem Cell Research, Vol 81, Iss , Pp 103547- (2024) |
| Publisher Information: |
Elsevier, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Biology (General) |
| Subject Terms: |
Biology (General), QH301-705.5 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1873-5061 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S1873506124002459; https://doaj.org/toc/1873-5061 |
| DOI: |
10.1016/j.scr.2024.103547 |
| Access URL: |
https://doaj.org/article/f82d64761c664410a628d565d90ff335 |
| Accession Number: |
edsdoj.f82d64761c664410a628d565d90ff335 |
| Database: |
Directory of Open Access Journals |
