Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations

从携带杂合 ZEB2 突变的 Mowat-Wilson 综合征患者中生成两种 iPSC 系

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作者:Giulia Gorrieri, Serena Tamburro, Simona Baldassari, Sara Guerrisi, Federico Zara, Emilia Ricci, Duccio Maria Cordelli, Paolo Scudieri, Ilaria Musante

Abstract

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.

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