ID   GM13792
AC   CVCL_1L83
DR   CLO; CLO_0033470
DR   BioSample; SAMN00802622
DR   Coriell; GM13792
DR   Wikidata; Q54846788
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.3993+1G>A (IVS28+1G>A) (IVS26+1G>A); ClinVar=VCV000141447; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM13792).
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   26Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 17
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