Cellosaurus cell line XP124LO LCL (CVCL

Cross-references
Cell line name	XP124LO LCL
Synonyms	Xeroderma Pigmentosum 124 LOndon LCL; XPG82; LB82
Accession	CVCL_ZP64
Resource Identification Initiative	To cite this cell line use: XP124LO LCL (RRID:CVCL_ZP64)
Comments	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.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (PubMed=9096355). Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (PubMed=9096355).
Disease	Xeroderma pigmentosum, complementation group G (NCIt: C3969) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_ZN37 ! XP124LO
Sex of cell	Male
Age at sampling	14Y
Category	Transformed cell line
Publications	PubMed=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331 Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997)
Encyclopedic resources	Wikidata; Q98135262
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8