ID   GM09587
AC   CVCL_N317
SY   GM9587; GM09587A
DR   CLO; CLO_0011399
DR   Coriell; GM09587
DR   Wikidata; Q54843863
RX   CelloPub=CLPUB00447;
RX   PubMed=8808599;
RX   PubMed=8845835;
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8269del150; Zygosity=Heterozygous (PubMed=8808599; PubMed=8845835).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg3008Cys (c.9022C>T); ClinVar=VCV000142187; Zygosity=Heterozygous (PubMed=8845835).
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   Male
AG   39Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 18
//
RX   PubMed=8808599; PMCID=PMC1914811;
RA   Wright, Jocyndra
RA   Teraoka, Sharon
RA   Onengut, Suna
RA   Tolun, Aslihan
RA   Gatti, Richard A.
RA   Ochs, Hans D.
RA   Concannon, Patrick
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten, David J.
RA   Golde, David W.
RA   Zhang, Rong H.
RA   Thaler, Howard Tzvi
RA   Gargiulo, Lucia
RA   Notaro, Rosario
RA   Luzzatto, Lucio
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//
RX   PubMed=8845835; DOI=10.1093/hmg/5.4.433;
RA   Gilad, Shlomit
RA   Khosravi, Rami
RA   Shkedy, Dganit
RA   Uziel, Tamar
RA   Ziv, Yael
RA   Savitsky, Kinneret
RA   Rotman, Galit
RA   Smith, Sara
RA   Chessa, Luciana
RA   Jorgensen, Timothy J.
RA   Harnik, Reli
RA   Frydman, Moshe
RA   Sanal, Ozden
RA   Portnoi, Sima
RA   Goldwicz, Zipora
RA   Jaspers, Nicolaas G.J.
RA   Gatti, Richard A.
RA   Lenoir, Gilbert Marcel
RA   Lavin, Martin Francis
RA   Tatsumi, Kouichi
RA   Wegner, Rolf-Dieter
RA   Shiloh, Yosef
RA   Bar-Shira, Anat
RT   "Predominance of null mutations in ataxia-telangiectasia.";
RL   Hum. Mol. Genet. 5:433-439(1996).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//