Cellosaurus cell line UVSS1VI (CVCL

Cross-references
Cell line name	UVSS1VI
Synonyms	UV-Sensitive Syndrome 1 VIllejuif
Accession	CVCL_ZP12
Resource Identification Initiative	To cite this cell line use: UVSS1VI (RRID:CVCL_ZP12)
Comments	Population: Caucasian. Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Trp361Cys (c.1083G>T); ClinVar=VCV000068752; Zygosity=Homozygous (PubMed=19329487).
Disease	UV-sensitive syndrome 2 (NCIt: C173110) UV-sensitive syndrome (ORDO: Orphanet_178338)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	9Y
Category	Finite cell line
Publications	PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150 Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009)
Encyclopedic resources	Wikidata; Q98134436
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7