ID   GM15789
AC   CVCL_0Q31
DR   Coriell; GM15789
DR   Wikidata; Q54848201
CC   Population: Caucasian; Czechoslovakian.
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15789).
CC   Discontinued: Coriell; GM15789; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 12
//