期刊
STEM CELL RESEARCH
卷 27, 期 -, 页码 10-14出版社
ELSEVIER
DOI: 10.1016/j.scr.2017.12.013
关键词
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资金
- Ministry of Science and Technology (MOST), Taiwan [MOST 106-2319-B-001-003, MOST104-2314-B-715-003-MY3, MOST104-2627-M-715-002, MOST104-2320-B-715-006-MY2, MOST105-2627-M-715-001, MOST106-2627-M-371-001, MOST106-2320-B-371-002]
- Taiwan Mouse Clinic [MOST 105-2325-B001-010]
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized bymyoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers. (c) 2017 The Authors. Published by Elsevier B.V.
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