ID   XP8BR LCL
AC   CVCL_2560
SY   Xeroderma Pigmentosum 8 BRighton LCL; LB316; 316
DR   ECACC; 98062333
DR   Wikidata; Q54902058
RX   PubMed=7825573;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg669Glyfs*40 (c.2005delA); ClinVar=VCV000445466; Zygosity=Heterozygous (from autologous cell line XP8BR).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly675Arg (c.2023G>C); Zygosity=Heterozygous (from autologous cell line XP8BR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W051 ! XP8BR
SX   Male
AG   1Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 16
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RX   PubMed=7825573; PMCID=PMC1801309;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//