ID   GM13683
AC   CVCL_1L75
SY   AT400AIV3
DR   CLO; CLO_0032756
DR   BioSample; SAMN00802526
DR   Coriell; GM13683
DR   Wikidata; Q54846712
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1267_Val1268insTer (c.3802delG) (p.Val1268Terfs); ClinVar=VCV000127374; Zygosity=Unspecified (Coriell=GM13683).
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   7Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
//
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).
//