Cellosaurus cell line UUIGPi005-A (CVCL

Cross-references
Cell line name	UUIGPi005-A
Synonyms	UUIGPi005A; UUIGPi005; MW1; MWS27(7)
Accession	CVCL_WT82
Resource Identification Initiative	To cite this cell line use: UUIGPi005-A (RRID:CVCL_WT82)
Comments	From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden. Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:14881; ZEB2; Simple; p.Arg343Ter (c.1027C>T); ClinVar=VCV000189281; Zygosity=Heterozygous (PubMed=31376723).
Disease	Mowat-Wilson syndrome (NCIt: C74999) Mowat-Wilson syndrome due to a ZEB2 point mutation (ORDO: Orphanet_261552)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=31376723; DOI=10.1016/j.scr.2019.101518 Jens Schuster, Maria Sobol, Ambrin Fatima, Ayda Khalfallah, Loora Laan, Britt-Marie Anderlid, Ann Nordgren, Niklas Dahl; Mowat-Wilson syndrome: generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant. Stem Cell Res. 39:101518-101518(2019)
Cell line databases/resources	hPSCreg; UUIGPi005-A
Encyclopedic resources	Wikidata; Q98134414
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	10