ID   GM14451
AC   CVCL_1M61
DR   CLO; CLO_0031262
DR   Coriell; GM14451
DR   Wikidata; Q54847217
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp2569Ter (c.7703_7704GA[1]) (c.7705_7706delGA) (p.Arg2568_Asp2569insTer); ClinVar=VCV000220550; Zygosity=Heterozygous (Coriell=GM14451).
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   17Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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