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Cellosaurus ATH2ABR (CVCL_RP09)

[Text version]
Cell line name ATH2ABR
Synonyms Ataxia Telangiectasia Heterozygote 2 Australia BRisbane
Accession CVCL_RP09
Resource Identification Initiative To cite this cell line use: ATH2ABR (RRID:CVCL_RP09)
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=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; Q54751224
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number8