ID   XP6BR LCL
AC   CVCL_2558
SY   Xeroderma Pigmentosum 6 BRighton LCL; LB253; 253
DR   ECACC; 98062330
DR   Wikidata; Q54902053
RX   PubMed=1372096;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Thr808Valfs*48 (c.2421_2604del184); Zygosity=Heterozygous (from autologous cell line XP6BR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): ECACC=98062330
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 9,13
ST   D5S818: 11,12
ST   D7S820: 8,12
ST   TH01: 6,9.3
ST   TPOX: 8
ST   vWA: 17,19
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZN51 ! XP6BR
SX   Male
AG   67Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 15
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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).
//