| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6481800 | Stem Cell Research | 2016 | 4 Pages |
Abstract
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183CÂ >Â A]; p. R395S in CYP27A1. Episomal plasmids encoding the pluripotency genes OCT4, SOX2, KLF4, L-MYC and LIN28 were introduced via electroporation. The generated line iPS-CTX-R395S has no sign of plasmid integration or chromosomal aberration and retained the mutation site in CYP27A1. Furthermore, iPSCs express pluripotency markers and are able to differentiate in all germ layers in vitro. The generated line may be a useful tool for disease modelling of CTX.
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Authors
Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie WeiÃenberger, Carlo Wilke, Ludger Schöls,