Journal
STEM CELL RESEARCH
Volume 54, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102392
Keywords
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Funding
- Research of Korea Centers for Disease Control and Prevention [2020-ER6102-00]
- Korea University
- Korea Health Promotion Institute [2020-ER6102-00] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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Leigh syndrome is a progressive neurodegenerative disease caused by defects in mitochondrial genes, often starting in infancy or early childhood. A study successfully generated induced pluripotent stem cells from a patient with Leigh syndrome, showing pluripotency markers and differentiation potential.
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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