ID   AT31RM
AC   CVCL_XF20
SY   Ataxia Telangiectasia 31 RoMa
DR   Wikidata; Q93326323
RX   PubMed=9497252;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Homozygous (PubMed=9497252).
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   38Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949;
RA   Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M.,
RA   Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A.;
RT   "Genotype-phenotype relationships in ataxia-telangiectasia and
RT   variants.";
RL   Am. J. Hum. Genet. 62:551-561(1998).
//