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; 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 Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors 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	19-Dec-2024
Version number	16