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

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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122001301
Description
Summary: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.
ISSN:1873-5061

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