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Cellosaurus 180BRneo (CVCL_F226)

[Text version]
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 Transfected with: 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; 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)

Cross-references
Cell line collections (Providers) Coriell; GM16089
Cell line databases/resources CLO; CLO_0018859
Encyclopedic resources Wikidata; Q54582458
Entry history
Entry creation22-Oct-2012
Last entry update05-Oct-2023
Version number16