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Cellosaurus XP8BR LCL (CVCL_2560)

[Text version]
Cell line name XP8BR LCL
Synonyms Xeroderma Pigmentosum 8 BRighton LCL; LB316; 316
Accession CVCL_2560
Resource Identification Initiative To cite this cell line use: XP8BR LCL (RRID:CVCL_2560)
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.Arg669Glyfs*40 (c.2005delA); ClinVar=VCV000445466; Zygosity=Heterozygous (from autologous cell line XP8BR).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly675Arg (c.2023G>C); Zygosity=Heterozygous (from autologous cell line XP8BR).
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_W051 ! XP8BR
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Publications

PubMed=7825573; PMCID=PMC1801309
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

Cross-references
Cell line collections (Providers) ECACC; 98062333
Encyclopedic resources Wikidata; Q54902058
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number16