ID   GM13805
AC   CVCL_1L88
SY   AT394AIV1
DR   CLO; CLO_0033621
DR   BioSample; SAMN00802634
DR   Coriell; GM13805
DR   Wikidata; Q54846802
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Val410Ala (c.1229T>C); ClinVar=VCV000127332; Zygosity=Heterozygous (Coriell=GM13805).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.6736del20ins2; Zygosity=Heterozygous (Coriell=GM13805).
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   Female
AG   3Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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