ID   GM14070
AC   CVCL_1M48
SY   AT340AIB8
DR   CLO; CLO_0033756
DR   Coriell; GM14070
DR   Wikidata; Q54847024
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser1924Ter (c.5771C>A); ClinVar=VCV000429078; Zygosity=Heterozygous (Coriell=GM14070).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp2625_Ala2626delinsGluPro (c.7875_7876delTGinsGC); ClinVar=VCV000003030; Zygosity=Heterozygous (Coriell=GM14070).
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   9Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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