ID   GM15809
AC   CVCL_7642
DR   CLO; CLO_0027723
DR   BioSample; SAMN00804144
DR   Coriell; GM15809
DR   Wikidata; Q54848207
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15809).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; GM15809; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 20
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//