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-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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Cuadros Gamboa AL, Benfante R, Nizzardo M, Bachetti T, Pelucchi P, Melzi V, Arzilli C, Peruzzi M, Reinbold RA, Cardani S, Morrone A, Guerrini R, Zucchi I, Corti S, Ceccherini I, Piumelli R, Nassi N, Di Lascio S, Fornasari D
Journal Stem cell research
Publication Date 2022 May;61:102781
PubMed 35421844
DOI 10.1016/j.scr.2022.102781

Research Projects

Cell Lines