ID   GM13791
AC   CVCL_1L82
SY   AT322AIV5
DR   CLO; CLO_0033469
DR   BioSample; SAMN00802620
DR   Coriell; GM13791
DR   Wikidata; Q54846787
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile1581Asnfs*5 (c.4741dupA) (4742insA); ClinVar=VCV000453535; Zygosity=Heterozygous (Coriell=GM13791).
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   Female
AG   29Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
//
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).
//