ID   GM13691
AC   CVCL_1L76
SY   AT380AIV2
DR   CLO; CLO_0032750
DR   BioSample; SAMN00802538
DR   Coriell; GM13691
DR   Wikidata; Q54846719
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.901+1G>A (IVS9+1G>A); ClinVar=VCV000186761; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM13691).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8988-2A>G (IVS64-2A>G); ClinVar=VCV000185326; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM13691).
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   3Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 17
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