Stem Cell Research (Sep 2023)

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

  • Hannah Heseding,
  • Kirsten Jahn,
  • Björn Brändl,
  • Alexandra Haase,
  • Ian O. Shum,
  • Tim Kohrn,
  • Stefan Bleich,
  • Helge Frieling,
  • Ulrich Martin,
  • Franz-Josef Müller,
  • Stephanie Wunderlich,
  • Maximilian Deest

Journal volume & issue
Vol. 71
p. 103143

Abstract

Read online

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.