Article
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Stem cell research - 1 May 2022
Cuadros Gamboa Ana Lucia, Benfante Roberta, Nizzardo Monica, Bachetti Tiziana, Pelucchi Paride, Melzi Valentina, Arzilli Cinzia, Peruzzi Marta, Reinbold Rolland A, Cardani Silvia, Morrone Amelia, Guerrini Renzo, Zucchi Ileana, Corti Stefania, Ceccherini Isabella, Piumelli Raffaele, Nassi Niccolò, Di Lascio Simona, Fornasari Diego
Abstract excerpt
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion mutations in exon 3 of the transcription factor Paired-like homeobox 2B (PHOX2B) gene occur in 90% of CCHS cases. In this study, we describe the generation and...
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