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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.

Stem cell research - 1 Jul 2018

Chou Shih-Jie, Ko Yu-Ling, Yang Yu-Hsuan, Yarmishyn Aliaksandr A, Wu Yu-Ting, Chen Chien-Tsun, Lee Hsin-Chen, Wei Yau-Huei, Chiou Shih-Hwa

Abstract excerpt

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...

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Identifiers

PMID: 29960149
DOI: 10.1016/j.scr.2018.05.011

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