ID   AT13LA
AC   CVCL_1L72
SY   Ataxia Telangiectasia 13 Los Angeles; GM13328
DR   CLO; CLO_0013246
DR   BioSample; SAMN00802307
DR   Coriell; GM13328
DR   Wikidata; Q54846465
RX   PubMed=8808599;
RX   PubMed=16166284;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg1921Ter (IVS40+1126A>G); Zygosity=Heterozygous (PubMed=8808599).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.7630-2A>C (IVS53-2A>C) (IVS51-2A>C) (L2544del53); ClinVar=VCV000127447; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 54 (Leu2544del53) (PubMed=8808599).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 17
//
RX   PubMed=8808599; PMCID=PMC1914811;
RA   Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D.,
RA   Concannon P.;
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//