Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem Cell Res. 2016 Sep;17(2):437-440. doi: 10.1016/j.scr.2016.09.011. Epub 2016 Sep 18.

Abstract

Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, 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-SPG5-Y275X line may be a useful resource for disease modelling of SPG5.

MeSH terms

  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming*
  • Cytochrome P450 Family 7 / genetics*
  • DNA Mutational Analysis
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Genotype
  • Humans
  • Immunohistochemistry
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / metabolism
  • Spastic Paraplegia, Hereditary / pathology*
  • Steroid Hydroxylases / genetics*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Transcription Factors
  • Steroid Hydroxylases
  • Cytochrome P450 Family 7
  • CYP7B1 protein, human