Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS

Stem Cell Res. 2016 Nov;17(3):526-530. doi: 10.1016/j.scr.2016.08.008. Epub 2016 Aug 16.


Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique microdeletion PWS patient. We found that genes within the PWS region, including SNRPN and NDN, showed persistence of DNA methylation after iPSC reprogramming and differentiation to neurons. Genes within the PWS minimum critical deletion region remain silenced in both PWS large deletion and microdeletion iPSC following reprogramming. PWS iPSC and their relevant differentiated cell types could provide in vitro models of PWS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Comparative Genomic Hybridization
  • DNA Methylation
  • Fibroblasts / cytology
  • Gene Dosage
  • Genotype
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / transplantation
  • Mice
  • Mice, Inbred NOD
  • Neurons / cytology
  • Neurons / metabolism
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / pathology*
  • Skin / cytology
  • Teratoma / pathology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Tumor Suppressor Proteins / genetics
  • snRNP Core Proteins / genetics


  • NDN protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins
  • snRNP Core Proteins