Cellosaurus cell line XP54BE (CVCL

Cross-references
Cell line name	XP54BE
Synonyms	Xeroderma Pigmentosum 54 BEthesda; GM17861
Accession	CVCL_M326
Resource Identification Initiative	To cite this cell line use: XP54BE (RRID:CVCL_M326)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 12816; XPC; Simple; p.Lys692Ter (c.2074A>T); ClinVar=VCV000496267; 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	Transformed 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)
Cell line collections (Providers)	Coriell; GM17861
Cell line databases/resources	CLO; CLO_0016463
Encyclopedic resources	Wikidata; Q54849291
Entry history
Entry creation	05-Nov-2013
Last entry update	29-Jun-2023
Version number	15