Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene
Summary
Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening genetic disorder of the autonomic nervous system characterized by alveolar hypoventilation and generalized dysautonomia. CCHS is caused by heterozygous PHOX2B mutations, predominantly polyalanine repeat expansion (95% of cases) and, less frequently, frameshift mutations (5%). To address the lack of disease models, we generated five human induced pluripotent stem cell (hiPSC) lines derived from patients carrying +5Ala, +6Ala and +11Ala expansion mutations. These hiPSC lines exhibited undifferentiated hPSC phenotype, pluripotency, normal karyotype, and retention of the pathogenic genotype, providing a reliable in vitro platform for elucidating CCHS molecular mechanisms and disease pathogenesis. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Cuadros Gamboa AL, Chiesa F, Pelucchi P, Bertocchi M, Ripepi A, Piscitelli E, Peruzzi M, Nassi N, Arzilli C, Annunziata M, Morrone A, Tritto V, Riva P, Santamaria G, Ceccherini I, Benfante R, Di Lascio S, Fornasari D |
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| Journal | Stem cell research |
| Publication Date | 2025 Dec 15;90:103888 |
| PubMed | 41420984 |
| DOI | 10.1016/j.scr.2025.103888 |