Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
Summary
ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system. The best-known clinical picture associated with ZEB2 mutations is Mowat-Wilson syndrome, caused mostly by haploinsufficiency and characterized by possible multi-organ malformations, dysmorphic features, intellectual disability, and epilepsy. In this study we report the generation of IGGi004-A and IGGi005-A, iPSC clones from two patients carrying different heterozygous mutations in ZEB2, which can be used for disease modelling, pathophysiological studies and therapeutics testing. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gorrieri G, Tamburro S, Baldassari S, Guerrisi S, Zara F, Ricci E, Maria Cordelli D, Scudieri P, Musante I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103333 |
| PubMed | 38350246 |
| DOI | 10.1016/j.scr.2024.103333 |