Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line

Stem Cell Res. 2017 Apr:20:67-69. doi: 10.1016/j.scr.2017.02.017. Epub 2017 Mar 7.

Abstract

Human fibroblast cells collected from a 3-year old, female Rett Syndrome patient with a 32bp deletion in the X-linked MECP2 gene were obtained from the Coriell Institute. Fibroblasts were reprogrammed to iPSC cells using a Sendai-virus delivery system expressing human KOSM transcription factors. Cell-line pluripotency was demonstrated by gene expression, immunocytochemistry, in-vitro differentiation trilineage capacity and was of normal karyotype. Interestingly, subsequent clones retained the epigenetic memory of the parent fibroblasts allowing for the segregation of wild-type and mutant expressing clones. This MECP2 mutant expressing clone may serve as a model for investigating MECP2 reactivation in Rett's Syndrome.

MeSH terms

  • Alleles
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming*
  • Child, Preschool
  • Embryoid Bodies / metabolism
  • Embryoid Bodies / pathology
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Gene Deletion
  • Genetic Vectors / genetics
  • Genetic Vectors / metabolism
  • Genotype
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Rett Syndrome / genetics
  • Rett Syndrome / metabolism
  • Rett Syndrome / pathology*
  • Sendai virus / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Methyl-CpG-Binding Protein 2
  • Transcription Factors