Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant


Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Schuster J, Sobol M, Fatima A, Khalfallah A, Laan L, Anderlid BM, Nordgren A, Dahl N
Journal Stem cell research
Publication Date 2019 Aug;39:101518
PubMed 31376723
DOI 10.1016/j.scr.2019.101518

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