Stem Cell Research (May 2022)
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
- 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
Affiliations
- Ana Lucia Cuadros Gamboa
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy
- Roberta Benfante
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy; CNR – Institute of Neuroscience, Milan, Italy; NeuroMi–Milan Center for Neuroscience, University of Milano Bicocca, Milan, Italy
- Monica Nizzardo
- Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
- Tiziana Bachetti
- UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy
- Paride Pelucchi
- Institute for Biomedical Technologies, National Research Council, Milan, Italy
- Valentina Melzi
- Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
- Cinzia Arzilli
- Sleep Disordered Breathing and SIDS Center, Meyer Children's Hospital, Florence, Italy
- Marta Peruzzi
- Sleep Disordered Breathing and SIDS Center, Meyer Children's Hospital, Florence, Italy
- Rolland A. Reinbold
- Institute for Biomedical Technologies, National Research Council, Milan, Italy
- Silvia Cardani
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy
- Amelia Morrone
- Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy
- Renzo Guerrini
- Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy
- Ileana Zucchi
- Institute for Biomedical Technologies, National Research Council, Milan, Italy
- Stefania Corti
- Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Università degli Studi di Milano, Milan, Italy
- Isabella Ceccherini
- UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy
- Raffaele Piumelli
- Sleep Disordered Breathing and SIDS Center, Meyer Children's Hospital, Florence, Italy
- Niccolò Nassi
- Sleep Disordered Breathing and SIDS Center, Meyer Children's Hospital, Florence, Italy
- Simona Di Lascio
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy; Corresponding authors at: Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Vanvitelli 32, 20129 Milano, Italy.
- Diego Fornasari
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy; CNR – Institute of Neuroscience, Milan, Italy; Corresponding authors at: Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Vanvitelli 32, 20129 Milano, Italy.
- Journal volume & issue
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Vol. 61
p. 102781
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.
