ID   XP11BR LCL
AC   CVCL_2556
SY   Xeroderma Pigmentosum 11 BRighton LCL; LB205; 205
DR   ECACC; 98062329
DR   Wikidata; Q54902045
RX   PubMed=1372096;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gly263Val (c.788G>T); dbSNP=rs1413703153; Zygosity=Homozygous (from autologous cell line XP11BR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W049 ! XP11BR
SX   Male
AG   62Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
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RX   PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d;
RA   Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.;
RT   "A comparison of the response of unstimulated and stimulated
RT   T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and
RT   trichothiodystrophy donors to the lethal action of UV-C.";
RL   Mutat. Res. 273:127-135(1992).
//