Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Stem Cell Res. 2016 Sep;17(2):433-436. doi: 10.1016/j.scr.2016.09.010. Epub 2016 Sep 17.

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. [1183C>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.

MeSH terms

  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming*
  • Cholestanetriol 26-Monooxygenase / genetics*
  • DNA Mutational Analysis
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Genotype
  • Humans
  • Immunohistochemistry
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Xanthomatosis, Cerebrotendinous / genetics
  • Xanthomatosis, Cerebrotendinous / metabolism
  • Xanthomatosis, Cerebrotendinous / pathology*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Transcription Factors
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase