ID   GM15989
AC   CVCL_F626
DR   CLO; CLO_0018690
DR   Coriell; GM15989
DR   Wikidata; Q54848287
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15989).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Caution: Could be identical to GM07166VA7 (Cellosaurus=CVCL_WL44).
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: 30-01-24; Version: 18
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