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Cellosaurus ATH1ABR (CVCL_RP08)

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Cell line name ATH1ABR
Synonyms Ataxia Telangiectasia Heterozygote 1 Australia BRisbane
Accession CVCL_RP08
Resource Identification Initiative To cite this cell line use: ATH1ABR (RRID:CVCL_RP08)
Comments From: Queensland Institute of Medical Research; Brisbane; Australia.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Heterozygous (PubMed=12195425).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Adult
Category Transformed cell line
Publications

PubMed=6228733; DOI=10.1016/0167-8817(83)90030-5
F. Paula Imray, Cheviot Kidson;
Perturbations of cell-cycle progression in gamma-irradiated ataxia telangiectasia and Huntington's disease cells detected by DNA flow cytometric analysis.
Mutat. Res. 112:369-382(1983)

PubMed=12195425; DOI=10.1038/ng958
Kevin Spring, Farida Ahangari, Shaun P. Scott, Paul M. Waring, David M. Purdie, Philip C. Chen, Kevin Hourigan, Jonathan Ramsay, Peter J. McKinnon, Michael Swift, Martin Francis Lavin;
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.
Nat. Genet. 32:185-190(2002)

Cross-references
Encyclopedic resources Wikidata; Q54751221
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number8