Generation of an induced pluripotent stem cell line, ZIPi021-A, from fibroblasts of a Prader-Willi syndrome patient with maternal uniparental disomy (mUPD)

Stem Cell Res. 2023 Sep:71:103143. doi: 10.1016/j.scr.2023.103143. Epub 2023 Jun 14.

Abstract

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternal expression of imprinted genes on chromosome 15q11-q13. We established a human induced pluripotent stem cell line (hiPSC), ZIPi021-A, from fibroblasts of a 4-year-old female PWS patient with the subtype of maternal uniparental disomy (mUPD). The generated hiPSC line was transgene-free, expressed pluripotency markers and showed the ability to differentiate into all three germ layers in vitro. The ZIPi021-A hiPSC line could be used as a cellular model for PWS in humans.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Neurodevelopmental Disorders*
  • Prader-Willi Syndrome* / genetics
  • Uniparental Disomy / genetics