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Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

Authors
Son, DaryeonZheng, JieKim, In YongYou, Seungkwon
Issue Date
Jul-2021
Publisher
ELSEVIER
Citation
STEM CELL RESEARCH, v.54
Indexed
SCIE
SCOPUS
Journal Title
STEM CELL RESEARCH
Volume
54
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/137160
DOI
10.1016/j.scr.2021.102392
ISSN
1873-5061
1876-7753
Abstract
Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood. Exercise intolerance and fatigue are common symptoms of mitochondrial disorders. Here, we generated induced pluripotent stem cell (iPSC) line from a 1-year-old patient with Leigh syndrome with MTCYB through temporal expression of exogenes, synthetic self-replicative mRNAs which were regulated by B18R protein. The established iPSCs showed expression of various pluripotency markers, a normal karyotype and differentiation potential to three germ layers in vitro while retaining MTCYB mutation.
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