ID   GM13961
AC   CVCL_1M27
DR   CLO; CLO_0033846
DR   BioSample; SAMN00802784
DR   Coriell; GM13961
DR   Wikidata; Q54846951
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.7630-2A>C (IVS53-2A>C) (IVS51-2A>C) (L2544del53); ClinVar=VCV000127447; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 54 (Leu2544del53) (Coriell=GM13961).
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   29Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 18
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