ID   XP7NE LCL
AC   CVCL_ZS42
SY   Xeroderma Pigmentosum 7 NEwscastle LCL; LB313; 313
DR   Wikidata; Q98136123
RX   PubMed=1372096;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Pro379Ser (c.1135C>T); ClinVar=VCV000134148; Zygosity=Heterozygous (from autologous cell line XP7NE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZN52 ! XP7NE
SX   Male
AG   28Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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).
//