Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA


MERRF syndrome is predominantly caused by A8344G mutation in the mitochondrial DNA (mtDNA), affecting MT-TK gene, which impairs the mitochondrial electron transport chain function. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines, TVGH-iPSC-MRF-Mlow and TVGH-iPSC-MRF-Mhigh, from the skin fibroblasts of a female MERRF patient harboring mtDNA A8344G mutation by using retrovirus transduction system. Both cell lines share the same genetic background except containing different proportions of mtDNA with the A8344G mutation. Both cell lines exhibited the pluripotency and capacity to differentiate into three germ layers. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chou SJ, Ko YL, Yang YH, Yarmishyn AA, Wu YT, Chen CT, Lee HC, Wei YH, Chiou SH
Journal Stem cell research
Publication Date 2018 Jul;30:201-205
PubMed 29960149
DOI 10.1016/j.scr.2018.05.011

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