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
Summary
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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Lorenz C, Zink A, Henke MT, Staege S, Mlody B, Bünning M, Wanker E, Diecke S, Schuelke M, Prigione A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 May;61:102742 |
| PubMed | 35279592 |
| DOI | 10.1016/j.scr.2022.102742 |