Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5522769 | Stem Cell Research | 2016 | 4 Pages |
Abstract
Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687Â +Â 2Â TÂ >Â 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.
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Authors
Stefan Hauser, Melanie Erzler, Yvonne Theurer, Stefanie Schuster, Rebecca Schüle, Ludger Schöls,