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Cellosaurus XP3BR LCL (CVCL_ZP69)

[Text version]
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; 3437; ERCC5; Simple; p.Asp499Ilefs*23 (c.1494delA); ClinVar=VCV000016575; Zygosity=Heterozygous (PubMed=11841555).
  • Mutation; HGNC; 3437; ERCC5; Simple; p.Lys917Asnfs*64 (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
Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.
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
Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K., Wood R.D., Clarkson S.G.
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)

Cross-references
Encyclopedic resources Wikidata; Q98135753
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7