ID   GM11264
AC   CVCL_1L68
DR   CLO; CLO_0025972
DR   Coriell; GM11264
DR   Wikidata; Q54844946
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln1839Ter (c.5515C>T); ClinVar=VCV000189177; Zygosity=Heterozygous (Coriell=GM11264).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser1905Ilefs*26 (c.5712dupA) (5712insA); ClinVar=VCV000141416; Zygosity=Heterozygous (Coriell=GM11264).
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   2Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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