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Stem Cell Res. 2019 Aug;39:101518. doi: 10.1016/j.scr.2019.101518. Epub 2019 Jul 27.

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

Author information

1
Uppsala University, Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala, Sweden. Electronic address: jens.schuster@igp.uu.se.
2
Uppsala University, Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala, Sweden.
3
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
4
Uppsala University, Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala, Sweden. Electronic address: niklas.dahl@igp.uu.se.

Abstract

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.

PMID:
31376723
DOI:
10.1016/j.scr.2019.101518
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