ID   AT65RM
AC   CVCL_XF31
SY   Ataxia Telangiectasia 65 RoMa
DR   Wikidata; Q93326421
RX   PubMed=10864201;
RX   PubMed=12105990;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.6573-9G>A (IVS47-9G>A); ClinVar=VCV000642095; Zygosity=Heterozygous; Note=Activates a cryptic splice site (PubMed=10864201).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Met2938Ilefs (c.8814_8824delGAGAAACTCTC) (8814del11); ClinVar=VCV000370841; Zygosity=Heterozygous (PubMed=10864201).
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)
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 9
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RX   PubMed=10864201; DOI=10.1054/bjoc.2000.1168;
RA   Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E.,
RA   Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L.,
RA   Pierotti M.A., Chessa L.;
RT   "ATM protein and p53-serine 15 phosphorylation in
RT   ataxia-telangiectasia (AT) patients and at heterozygotes.";
RL   Br. J. Cancer 82:1938-1945(2000).
//
RX   PubMed=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2;
RA   Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y.,
RA   Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.;
RT   "Detection of ATM gene mutation in human glioma cell line M059J by a
RT   rapid frameshift/stop codon assay in yeast.";
RL   Radiat. Res. 158:195-201(2002).
//