ID   GM13802
AC   CVCL_1L85
DR   CLO; CLO_0033612
DR   BioSample; SAMN00802628
DR   Coriell; GM13802
DR   Wikidata; Q54846798
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Leu762Valfs*2 (c.2282_2283CT[1]) (c.2284_2285delCT); ClinVar=VCV000141325; Zygosity=Heterozygous (Coriell=GM13802).
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   18Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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