ID   AT32RM
AC   CVCL_XF21
SY   Ataxia Telangiectasia 32 RoMa
DR   Wikidata; Q93326324
RX   PubMed=10864201;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1267_Val1268insTer (c.3802delG) (p.Val1268Terfs); ClinVar=VCV000127374; Zygosity=Homozygous (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: 19-12-24; Version: 10
//
RX   PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260;
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).
//