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Gorrieri, Giulia; Tamburro, Serena; Baldassari, Simona; Guerrisi, Sara; Zara, Federico; Ricci, Emilia; Maria Cordelli, Duccio; Scudieri, Paolo; Musante, Ilaria
Stem cell research, April 2024, 2024-Apr, 2024-04-00, 20240401, 2024-04-01, Letnik: 76Journal Article
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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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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