ID   GM13907
AC   CVCL_1M14
DR   CLO; CLO_0033974
DR   BioSample; SAMN00802720
DR   Coriell; GM13907
DR   Wikidata; Q54846910
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (Coriell=GM13907).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Unexplicit; IVS49-2A>G; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 50 (Met2315del38) (Coriell=GM13907).
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   18Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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