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.
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 / A.L. Cuadros Gamboa, R. Benfante, M. Nizzardo, T. Bachetti, P. Pelucchi, V. Melzi, C. Arzilli, M. Peruzzi, R.A. Reinbold, S. Cardani, A. Morrone, R. Guerrini, I. Zucchi, S. Corti, I. Ceccherini, R. Piumelli, N. Nassi, S. Di Lascio, D. Fornasari. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 61:(2022), pp. 102781.1-102781.5. [10.1016/j.scr.2022.102781]
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
A.L. Cuadros GamboaPrimo
;R. BenfanteSecondo
;M. Nizzardo;P. Pelucchi;S. Cardani;I. Zucchi;S. Corti;S. Di LascioPenultimo
;D. FornasariUltimo
2022
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.File | Dimensione | Formato | |
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