Cellosaurus cell line XP314VI (CVCL

Cross-references
Cell line name	XP314VI
Synonyms	Xeroderma Pigmentosum 314 VIllejuif
Accession	CVCL_ZR35
Resource Identification Initiative	To cite this cell line use: XP314VI (RRID:CVCL_ZR35)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg415Ter (c.1243C>T) (C1348T); ClinVar=VCV000438623; Zygosity=Heterozygous (PubMed=16081512).
Disease	Xeroderma pigmentosum, complementation group C (NCIt: C114770) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Finite cell line
Publications	PubMed=16081512; DOI=10.1093/carcin/bgi204 Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94(2006)
Encyclopedic resources	Wikidata; Q98135679
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7