ID   AT14LA
AC   CVCL_1L65
SY   Ataxia Telangiectasia 14 Los Angeles; GM11255
DR   CLO; CLO_0025959
DR   Coriell; GM11255
DR   Wikidata; Q54844942
RX   PubMed=16166284;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu2007Argfs*11 (c.6015dupC) (6015insC); ClinVar=VCV000490638; Zygosity=Heterozygous (Coriell=GM11255).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2855_Val2856delinsArgIle (c.8565_8566delTGinsAA) (8565TG>AA); ClinVar=VCV000140897; Zygosity=Heterozygous (Coriell=GM11255).
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   21Y
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).
//