ID   GM14169
AC   CVCL_1M60
DR   CLO; CLO_0034356
DR   Coriell; GM14169
DR   Wikidata; Q54847090
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Thr2333Asnfs*40 (c.6997dupA) (6997insA); ClinVar=VCV000140818; Zygosity=Heterozygous (Coriell=GM14169).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8786+1G>A (IVS62+1G>A) (c.8672del115) (G2891fsX); ClinVar=VCV000127463; Zygosity=Heterozygous; Note=Splice donor mutation. Causes in-frame skipping of exon 62 (Coriell=GM14169).
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   18Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 18
//