ID   79RD27
AC   CVCL_A0EU
DR   Wikidata; Q108819759
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   PubMed=3248383;
RX   PubMed=3337113;
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: 23-09-21; Last updated: 29-06-23; Version: 5
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RX   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers, Nicolaas G.J.
RA   Roza, Len
RA   Vermeulen, Wim
RA   Eker, Andre P.M.
RA   Taalman, Rob Desire F.M.
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Bootsma, Dirk
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In book chapter) DNA damage and repair; Castellani, Amleto (eds.); pp.73-82; Springer; Boston; USA (1989).
//
RX   PubMed=3248383; DOI=10.1159/000132673;
RA   Jaspers, Nicolaas G.J.
RA   Gatti, Richard A.
RA   Baan, Carla C.
RA   Linssen, Peter C.M.L.
RA   Bootsma, Dirk
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).
//
RX   PubMed=3337113; PMCID=PMC1715319;
RA   Jaspers, Nicolaas G.J.
RA   Taalman, Rob Desire F.M.
RA   Baan, Carla 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).
//