ID   AT6LA
AC   CVCL_1L64
SY   Ataxia Telangiectasia 6 Los Angeles; GM11254
DR   CLO; CLO_0022968
DR   Coriell; GM11254
DR   Wikidata; Q54844941
RX   PubMed=8808599;
RX   PubMed=16166284;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.2467del372 (Ex19-20del); Zygosity=Heterozygous (PubMed=16166284).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8786+1G>A (IVS62+1G>A) (c.8672del115) (G2891fsX); ClinVar=VCV000127463; Zygosity=Heterozygous; Note=Splice donor mutation. Causes in-frame skipping of exon 62 (PubMed=16166284).
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   14Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 17
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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).
//