ID   AT34LA
AC   CVCL_1L70
SY   Ataxia Telangiectasia 34 Los Angeles; GM11266
DR   CLO; CLO_0025967
DR   Coriell; GM11266
DR   Wikidata; Q54844948
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8988-1G>C (IVS64-1G>C) (8988del13) (p.Ser2996Ter); ClinVar=VCV000181987; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11266).
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   17Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
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