Cellosaurus logo
expasy logo

Cellosaurus XP-CS2 LCL (CVCL_L456)

[Text][XML][JSON]
Cell line name XP-CS2 LCL
Synonyms GM03249; GM 3249; GM3249
Accession CVCL_L456
Resource Identification Initiative To cite this cell line use: XP-CS2 LCL (RRID:CVCL_L456)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (Coriell=GM03249).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L455 ! XP-CS2
CVCL_XG02 ! XPCS2VI
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Publications

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03249
Cell line databases/resources CLO; CLO_0016701
Biological sample resources BioSample; SAMN00808324
Encyclopedic resources Wikidata; Q54837973
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number20