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Cellosaurus ATH1ABR (CVCL_RP08)

[Text version]
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; 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
Imray F.P., Kidson C.
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
Spring K., Ahangari F., Scott S.P., Waring P.M., Purdie D.M., Chen P.C., Hourigan K., Ramsay J., McKinnon P.J., Swift M., Lavin M.F.
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 update29-Jun-2023
Version number7