ID   87RD102
AC   CVCL_WY28
DR   Wikidata; Q93310442
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   PubMed=3248383;
RX   PubMed=10987302;
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=10987302).
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)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 9
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RX   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M.,
RA   Hoeijmakers J.H.J., Bootsma D.;
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989).
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RX   PubMed=3248383; DOI=10.1159/000132673;
RA   Jaspers N.G.J., Gatti R.A., Baan C.C., Linssen P.C.M.L., Bootsma D.;
RT   "Genetic complementation analysis of ataxia telangiectasia and
RT   Nijmegen breakage syndrome: a survey of 50 patients.";
RL   Cytogenet. Cell Genet. 49:259-263(1988).
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RX   PubMed=10987302;
RA   Girard P.-M., Foray N., Stumm M., Waugh A.P.W., Riballo E., Maser R.S.,
RA   Phillips W.P., Petrini J.H.J., Arlett C.F., Jeggo P.A.;
RT   "Radiosensitivity in Nijmegen breakage syndrome cells is attributable
RT   to a repair defect and not cell cycle checkpoint defects.";
RL   Cancer Res. 60:4881-4888(2000).
//