Cellosaurus cell line XPH104BE LCL (CVCL

Cross-references
Cell line name	XPH104BE LCL
Synonyms	Xeroderma Pigmentosum Heterozygote 104 BEthesda LCL; GM16464
Accession	CVCL_1F62
Resource Identification Initiative	To cite this cell line use: XPH104BE LCL (RRID:CVCL_1F62)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln136Ter (c.406C>T) (C603T); ClinVar=VCV000016578; Zygosity=Heterozygous (PubMed=12060391).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Adult
Category	Transformed cell line
Publications	PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J. Invest. Dermatol. 118:972-982(2002)
Cell line collections (Providers)	Coriell; GM16464
Cell line databases/resources	CLO; CLO_0017823
Encyclopedic resources	Wikidata; Q54848580
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	12