ID   XP107LO LCL
AC   CVCL_ZS44
SY   Xeroderma Pigmentosum 107 LOndon LCL; LB98; 98
DR   Wikidata; Q98135193
RX   PubMed=1372096;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from autologous cell line XP107LO).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP107LO).
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_ZN35 ! XP107LO
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
//