ID   180BRhTERT
AC   CVCL_WX36
SY   180BRhT
DR   Wikidata; Q93300273
RX   PubMed=19056826;
CC   Sequence variation: Mutation; HGNC; 6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 11730; TERT.
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   Telomerase immortalized cell line
DT   Created: 06-09-19; Last updated: 10-09-24; Version: 8
//
RX   PubMed=19056826; DOI=10.1093/nar/gkn957; PMCID=PMC2632933;
RA   Riballo E., Woodbine L., Stiff T., Walker S.A., Goodarzi A.A.,
RA   Jeggo P.A.;
RT   "XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following
RT   ligation.";
RL   Nucleic Acids Res. 37:482-492(2009).
//