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 // 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). //