ID   GM13762
AC   CVCL_1L78
SY   AT401AIV2
DR   CLO; CLO_0032778
DR   BioSample; SAMN00802594
DR   Coriell; GM13762
DR   Wikidata; Q54846773
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Thr2333Asnfs*40 (c.6997dupA) (6997insA); ClinVar=VCV000140818; Zygosity=Heterozygous (Coriell=GM13762).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2855_Val2856delinsArgIle (c.8565_8566delTGinsAA) (8565TG>AA); ClinVar=VCV000140897; Zygosity=Heterozygous (Coriell=GM13762).
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: 18
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