ID   GM15841
AC   CVCL_0Q44
DR   CLO; CLO_0027765
DR   BioSample; SAMN00804178
DR   Coriell; GM15841
DR   GEO; GSM89121
DR   Wikidata; Q54848225
RX   PubMed=16809669;
CC   Population: Caucasian; Czechoslovakian.
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Heterozygous (Coriell=GM15841).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
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RX   PubMed=16809669; DOI=10.1101/gr.5320706; PMCID=PMC1524869;
RA   Cheung V.G., Ewens W.J.;
RT   "Heterozygous carriers of Nijmegen breakage syndrome have a distinct
RT   gene expression phenotype.";
RL   Genome Res. 16:973-979(2006).
//