ID   AT31LA
AC   CVCL_1L69
SY   Ataxia Telangiectasia 31 Los Angeles; GM11265
DR   CLO; CLO_0025970
DR   Coriell; GM11265
DR   Wikidata; Q54844947
RX   PubMed=8808599;
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1991Ter (c.5971G>T); ClinVar=VCV000453606; Zygosity=Heterozygous (Coriell=GM11265).
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   6Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
//
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).
//