ID   GM14067
AC   CVCL_1M47
DR   CLO; CLO_0033755
DR   Coriell; GM14067
DR   Wikidata; Q54847023
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1267_Val1268insTer (c.3802delG) (p.Val1268Terfs); ClinVar=VCV000127374; Zygosity=Unspecified (Coriell=GM14067).
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   17Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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