| 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
Jaspers N.G.J., Gatti R.A., Baan C.C., Linssen P.C.M.L., Bootsma D.
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
Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M., Hoeijmakers J.H.J., Bootsma D.
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989) PubMed=10987302
Girard P.-M., Foray N., Stumm M., Waugh A.P.W., Riballo E., Maser R.S., Phillips W.P., Petrini J.H.J., Arlett C.F., Jeggo P.A.
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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