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; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (PubMed=10395545).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen.
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: 14-08-25; Version: 19
//
RX   PubMed=10395545; DOI=10.1016/S0960-9822(99)80311-X;
RA   Riballo, Enriqueta
RA   Critchlow, Susan E.
RA   Teo, Soo-Hwang
RA   Doherty, Aidan J.
RA   Priestley, Anne
RA   Broughton, Bernard C.
RA   Kysela, Boris
RA   Beamish, Heather J.
RA   Plowman, Nicholas
RA   Arlett, Colin Francis
RA   Lehmann, Alan Robert
RA   Jackson, Stephen Philip
RA   Jeggo, Penelope Ann
RT   "Identification of a defect in DNA ligase IV in a radiosensitive
RT   leukaemia patient.";
RL   Curr. Biol. 9:699-702(1999).
//