ID   AT16LA
AC   CVCL_1L71
SY   Ataxia Telangiectasia 16 Los Angeles; GM13326
DR   CLO; CLO_0013248
DR   BioSample; SAMN00802303
DR   Coriell; GM13326
DR   Wikidata; Q54846463
RX   PubMed=8808599;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp393_Glu394delinsTer (c.1179_1180delGG) (p.Trp393Terfs); ClinVar=VCV000231937; Zygosity=Heterozygous (PubMed=8808599).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Heterozygous (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   Female
AG   17Y
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).
//