ID   GM14471
AC   CVCL_1M62
DR   CLO; CLO_0031282
DR   Coriell; GM14471
DR   Wikidata; Q54847227
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=Splice acceptor mutation. Causes in-frame skipping of exon 54 (Leu2544del53) (Coriell=GM14471).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.8786+1G>A (IVS62+1G>A) (c.8672del115) (G2891fsX); ClinVar=VCV000127463; Zygosity=Heterozygous; Note=Splice donor mutation. Causes in-frame skipping of exon 62 (Coriell=GM14471).
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   29Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 18
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