ID   GM11258
AC   CVCL_1L66
DR   CLO; CLO_0025960
DR   Coriell; GM11258
DR   Wikidata; Q54844943
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.5497-2A>C (IVS38-2A>C) (c.5496_5556del61); ClinVar=VCV000449345; Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM11258).
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   21Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
//