ID   GM15786
AC   CVCL_W151
DR   CLO; CLO_0027730
DR   Coriell; GM15786
DR   Wikidata; Q54848199
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Homozygous (Coriell=GM15786).
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   19Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
//