Carmen Lorenz, Annika Zink, Marie-Therese Henke, Selma Staege, Barbara Mlody, Miriam Bünning, Erich Wanker, Sebastian Diecke, Markus Schuelke, Alessandro Prigione
Stem cell research 2022 MayWe 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.
Carmen Lorenz, Annika Zink, Marie-Therese Henke, Selma Staege, Barbara Mlody, Miriam Bünning, Erich Wanker, Sebastian Diecke, Markus Schuelke, Alessandro Prigione. 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. Stem cell research. 2022 May;61:102742
PMID: 35279592
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