ID   GM13906
AC   CVCL_1M13
DR   CLO; CLO_0033973
DR   BioSample; SAMN00802716
DR   Coriell; GM13906
DR   Wikidata; Q54846904
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln1331His (c.3993G>C); ClinVar=VCV000221142; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 28 (Coriell=GM13906).
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   21Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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