Cellosaurus cell line 180BRneo (CVCL

Cross-references
Cell line name	180BRneo
Synonyms	180BR neo; GM16089
Accession	CVCL_F226
Resource Identification Initiative	To cite this cell line use: 180BRneo (RRID:CVCL_F226)
Comments	Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen. Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo. Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo). Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (PubMed=10395545).
Disease	LIG4 syndrome (NCIt: C122657) LIG4 syndrome (ORDO: Orphanet_99812)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_2278 (180BR)
Sex of cell	Male
Age at sampling	15Y
Category	Transformed cell line
Publications	PubMed=10395545; DOI=10.1016/S0960-9822(99)80311-X Riballo E., Critchlow S.E., Teo S.-H., Doherty A.J., Priestley A., Broughton B.C., Kysela B., Beamish H.J., Plowman N., Arlett C.F., Lehmann A.R., Jackson S.P., Jeggo P.A. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr. Biol. 9:699-702(1999)
Cell line collections (Providers)	Coriell; GM16089
Cell line databases/resources	CLO; CLO_0018859
Encyclopedic resources	Wikidata; Q54582458
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	18