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Stem Cell Res ; 76: 103333, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38350246

RESUMO

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.


Assuntos
Fácies , Doença de Hirschsprung , Células-Tronco Pluripotentes Induzidas , Deficiência Intelectual , Microcefalia , Humanos , Deficiência Intelectual/complicações , Homeobox 2 de Ligação a E-box com Dedos de Zinco/genética , Mutação/genética , Fatores de Transcrição/genética , Proteínas de Homeodomínio/genética
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