Cellosaurus cell line UMILi028-A (CVCL

Cross-references
Cell line name	UMILi028-A
Accession	CVCL_C0IE
Resource Identification Initiative	To cite this cell line use: UMILi028-A (RRID:CVCL_C0IE)
Comments	From: University of Milan; Milan; Italy. Population: Caucasian. Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9143; PHOX2B; Simple; p.Ala260(5_9) (c.765_779dup); ClinVar=VCV000006008; Zygosity=Heterozygous (PubMed=35421844).
Disease	Congenital central hypoventilation (NCIt: C98889) Ondine syndrome (ORDO: Orphanet_661)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=35421844; DOI=10.1016/j.scr.2022.102781 Cuadros Gamboa A.L., Benfante R., Nizzardo M., Bachetti T., Pelucchi P., Melzi V., Arzilli C., Peruzzi M., Reinbold R.A., Cardani S., Morrone A., Guerrini R., Zucchi I., Corti S., Ceccherini I., Piumelli R., Nassi N., Di Lascio S., Fornasari D. 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. Stem Cell Res. 61:102781-102781(2022)
Cell line databases/resources	hPSCreg; UMILi028-A
Biological sample resources	BioSamples; SAMEA13565938
Encyclopedic resources	Wikidata; Q112930521
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6