Cellosaurus cell line UMILi028-A (CVCL

Cellosaurus UMILi028-A (CVCL_C0IE)

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 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 ...Show all 19 authors... , Renzo Guerrini, Ileana Zucchi, Stefania Corti, Isabella Ceccherini, Raffaele Piumelli, Niccolo Nassi, Simona Di Lascio, Diego Fornasari; Show fewer authors 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