ID   GM11238
AC   CVCL_1L62
DR   CLO; CLO_0022963
DR   Coriell; GM11238
DR   Wikidata; Q54844936
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.5395-12A>G (IVS32-12A>G); Zygosity=Homozygous (Coriell=GM11238).
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   31Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
//