Generation of an induced pluripotent stem cell line, ZIPi021-A, from fibroblasts of a Prader-Willi syndrome patient with maternal uniparental disomy (mUPD).
Journal: Stem Cell Research
Published:
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.
Authors
Hannah Heseding, Kirsten Jahn, Björn Brändl, Alexandra Haase, Ian Shum, Tim Kohrn, Stefan Bleich, Helge Frieling, Ulrich Martin, Franz-josef Müller, Stephanie Wunderlich, Maximilian Deest
Relevant Conditions