ID   XP1NE LCL
AC   CVCL_ZS45
SY   Xeroderma Pigmentosum 1 NEwscastle LCL; LB 309; LB309; 309
DR   Wikidata; Q98135465
RX   PubMed=1372096;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly47Arg (c.139G>A); ClinVar=VCV001176084; Zygosity=Heterozygous (from autologous cell line XP1NE).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from autologous cell line XP1NE).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (from autologous cell line XP1NE).
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_J997 ! XP1NE
SX   Female
AG   22Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 9
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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).
//