期刊
STEM CELL RESEARCH
卷 17, 期 3, 页码 485-488出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.scr.2016.09.022
关键词
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资金
- European Union within the 7th European Community Framework Programme through NEUROMICS network [F5-2012-305121]
- European Union within the 7th European Community Framework Programme through Marie Curie International Outgoing Fellowship [PIOF-GA-2012-326681]
- European Union within the 7th European Community Framework Programme through DZNE intersite project
Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c. 1687 + 2 T > A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-SPG4-splice retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG4-splice line might be a useful platform to study the pathomechanism of SPG4. (C) 2016 The Authors. Published by Elsevier B.V.
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