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


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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Heseding H, Jahn K, Brändl B, Haase A, Shum IO, Kohrn T, Bleich S, Frieling H, Martin U, Müller FJ, Wunderlich S, Deest M
Journal Stem cell research
Publication Date 2023 Sep;71:103143
PubMed 37343429
DOI 10.1016/j.scr.2023.103143

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