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Cellosaurus XP20BE LCL (CVCL_V576)

[Text version]
Cell line name XP20BE LCL
Synonyms Xeroderma Pigmentosum 20 BEthesda LCL; AG08802
Accession CVCL_V576
Resource Identification Initiative To cite this cell line use: XP20BE LCL (RRID:CVCL_V576)
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; 3437; ERCC5; Simple; p.Glu11Ter (c.31G>T); Zygosity=Heterozygous (PubMed=9447232).
Disease Xeroderma pigmentosum-Cockayne syndrome complex (NCIt: C156031)
Xeroderma pigmentosum-Cockayne syndrome complex (ORDO: Orphanet_220295)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V577 ! XP20BE
Sex of cell Male
Age at sampling 1Y5M
Category Transformed cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=9447232; DOI=10.1016/S0921-8777(97)00031-1
Okinaka R.T., Perez-Castro A.V., Sena A., Laubscher K., Strniste G.F., Park M.S., Hernandez R., MacInnes M.A., Kraemer K.H.
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree.
Mutat. Res. 385:107-114(1997)

Cross-references
Cell line collections (Providers) Coriell; AG08802
Cell line databases/resources CLO; CLO_0031382
Encyclopedic resources Wikidata; Q54742488
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number13