| Cell line name |
87RD102 |
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| Accession |
CVCL_WY28 |
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| Resource Identification Initiative |
To cite this cell line use: 87RD102 (RRID:CVCL_WY28) |
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| Comments |
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=10987302).
|
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| Disease |
Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
Age unspecified |
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| Category |
Finite cell line |
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| Publications | PubMed=3248383; DOI=10.1159/000132673
Nicolaas G.J. Jaspers, Richard A. Gatti, Carla C. Baan, Peter C.M.L. Linssen, Dirk Bootsma;
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients.
Cytogenet. Cell Genet. 49:259-263(1988) DOI=10.1007/978-1-4757-5016-4_9
Nicolaas G.J. Jaspers, Len Roza, Wim Vermeulen, Andre P.M. Eker, Rob Desire F.M. Taalman, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma;
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani, Amleto (eds.); pp.73-82; Springer; Boston; USA (1989) PubMed=10987302
Pierre-Marie Girard, Nicolas Foray, Markus Stumm, Alastair P.W. Waugh, Enriqueta Riballo, Richard S. Maser, William P. Phillips, John H.J. Petrini, Colin Francis Arlett, Penelope Ann Jeggo;
Radiosensitivity in Nijmegen breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects.
Cancer Res. 60:4881-4888(2000) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q93310442
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| Entry history |
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| Entry creation | 06-Sep-2019 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 9 |
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