학술논문
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
Document Type
article
Author
Ana Lucia Cuadros Gamboa; Roberta Benfante; Monica Nizzardo; Tiziana Bachetti; Paride Pelucchi; Valentina Melzi; Cinzia Arzilli; Marta Peruzzi; Rolland A. Reinbold; Silvia Cardani; Amelia Morrone; Renzo Guerrini; Ileana Zucchi; Stefania Corti; Isabella Ceccherini; Raffaele Piumelli; Niccolò Nassi; Simona Di Lascio; Diego Fornasari
Source
Stem Cell Research, Vol 61, Iss , Pp 102781- (2022)
Subject
Language
English
ISSN
1873-5061
Abstract
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 characterization of two human induced pluripotent stem cell (hiPSC) lines from female CCHS patients carrying a heterozygous + 5 alanine expansion mutation. The generated iPSC lines show a normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.