ID   ATH2ABR
AC   CVCL_RP09
SY   Ataxia Telangiectasia Heterozygote 2 Australia BRisbane
DR   Wikidata; Q54751224
RX   PubMed=12195425;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Heterozygous (PubMed=12195425).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Adult
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 7
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RX   PubMed=12195425; DOI=10.1038/ng958;
RA   Spring K., Ahangari F., Scott S.P., Waring P.M., Purdie D.M., Chen P.C.,
RA   Hourigan K., Ramsay J., McKinnon P.J., Swift M., Lavin M.F.;
RT   "Mice heterozygous for mutation in Atm, the gene involved in
RT   ataxia-telangiectasia, have heightened susceptibility to cancer.";
RL   Nat. Genet. 32:185-190(2002).
//