ID   GM07166
AC   CVCL_7464
SY   GM7166; GM07166B
DR   CLO; CLO_0036901
DR   Coriell; GM07166
DR   Wikidata; Q54842561
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00505;
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   PubMed=3337113;
RX   PubMed=12419185;
RX   PubMed=19896956;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM07166).
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)
OI   CVCL_F144 ! GM07078
SX   Female
AG   20Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 22
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   CelloPub=CLPUB00505;
RA   Komatsu K., Weemaes C.M.R., Smeets D.F.C.M., Oshimura M., Okumura Y.;
RT   "Establishment of cell line derived from the patient with Nijmegen
RT   breakage syndrome and the genetic complementation with ataxia
RT   telangiectasia disease.";
RL   J. Radiat. Res. 34:320-320(1993).
//
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) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston (1989).
//
RX   PubMed=3337113;
RA   Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.;
RT   "Patients with an inherited syndrome characterized by
RT   immunodeficiency, microcephaly, and chromosomal instability: genetic
RT   relationship to ataxia telangiectasia.";
RL   Am. J. Hum. Genet. 42:66-73(1988).
//
RX   PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9;
RA   Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i.,
RA   Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.;
RT   "NBS1 localizes to gamma-H2AX foci through interaction with the
RT   FHA/BRCT domain.";
RL   Curr. Biol. 12:1846-1851(2002).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//