ID   180BRneo
AC   CVCL_F226
SY   180BR neo; GM16089
DR   CLO; CLO_0018859
DR   Coriell; GM16089
DR   Wikidata; Q54582458
RX   PubMed=10395545;
CC   Sequence variation: Mutation; HGNC; 6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (PubMed=10395545).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122657; LIG4 syndrome
DI   ORDO; Orphanet_99812; LIG4 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2278 ! 180BR
SX   Male
AG   15Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 10-09-24; Version: 17
//
RX   PubMed=10395545; DOI=10.1016/S0960-9822(99)80311-X;
RA   Riballo E., Critchlow S.E., Teo S.-H., Doherty A.J., Priestley A.,
RA   Broughton B.C., Kysela B., Beamish H.J., Plowman N., Arlett C.F.,
RA   Lehmann A.R., Jackson S.P., Jeggo P.A.;
RT   "Identification of a defect in DNA ligase IV in a radiosensitive
RT   leukaemia patient.";
RL   Curr. Biol. 9:699-702(1999).
//