Cellosaurus cell line XP3BR LCL (CVCL

Cellosaurus XP3BR LCL (CVCL_ZP69)

Cross-references
Cell line name	XP3BR LCL
Synonyms	Xeroderma Pigmentosum 3 BRighton; LBL463; LB463; 463
Accession	CVCL_ZP69
Resource Identification Initiative	To cite this cell line use: XP3BR LCL (RRID:CVCL_ZP69)
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.Asp499Ilefs23 (c.1494delA); ClinVar=VCV000016575; Zygosity=Heterozygous (PubMed=11841555). Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Lys917Asnfs64 (c.2751delA); ClinVar=VCV000016576; Zygosity=Heterozygous (PubMed=11841555).
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_M286 ! XP3BR
Sex of cell	Male
Age at sampling	6-7Y
Category	Transformed cell line
Publications	PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x Philippe Lalle, Thierry Nouspikel, Angelos Constantinou, Fabrizio Thorel, Stuart Gordon Clarkson; The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. J. Invest. Dermatol. 118:344-351(2002) PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987 Fabrizio Thorel, Angelos Constantinou, Isabelle Dunand-Sauthier, Thierry Nouspikel, Philippe Lalle, Anja Raams, Nicolaas G.J. Jaspers, Wim Vermeulen, Mahmud K.K. Shivji, Richard Dean Wood, Stuart Gordon Clarkson; Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Mol. Cell. Biol. 24:10670-10680(2004)
Encyclopedic resources	Wikidata; Q98135753
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8