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

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Schuster J, Sobol M, Fatima A, Khalfallah A, Laan L, Anderlid BM, Nordgren A, Dahl N

Stem Cell Res 39 (-) 101518 [2019-08-00; online 2019-07-27]

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.

PubMed 31376723

DOI 10.1016/j.scr.2019.101518

Crossref 10.1016/j.scr.2019.101518

pii: S1873-5061(19)30148-5