ID   GM15696
AC   CVCL_F623
DR   CLO; CLO_0027654
DR   Coriell; GM15696
DR   Wikidata; Q54848132
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15696).
CC   Transformant: Ad5-SV40 hybrid virus (Note=1613).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7464 ! GM07166
SX   Female
AG   20Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 10-09-24; Version: 19
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