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Cellosaurus UOK257 (CVCL_S717)

[Text version]
Cell line name UOK257
Synonyms UOK-257; UOK 257
Accession CVCL_S717
Resource Identification Initiative To cite this cell line use: UOK257 (RRID:CVCL_S717)
Comments Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
Sequence variations
  • Mutation; HGNC; 27310; FLCN; Simple; p.His429Profs*27 (c.1285dupC) (1733insC); ClinVar=VCV000003363; Zygosity=Hemizygous (PubMed=18206534).
Disease Birt-Hogg-Dube syndrome (NCIt: C28244)
Birt-Hogg-Dube syndrome (ORDO: Orphanet_122)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_1D69 (UOK257-2)
Sex of cell Male
Age at sampling 46Y
Category Cancer cell line
Web pages https://www.thermofisher.com/ch/en/home/technical-resources/cell-lines/u/cell-lines-detail-605.html
https://www.bhdsyndrome.org/for-researchers/what-is-bhd/cell-lines-and-model-organisms-for-studying-bhd-syndrome/cell-lines/
Publications

PubMed=17028174; DOI=10.1073/pnas.0603781103
Baba M., Hong S.-B., Sharma N., Warren M.B., Nickerson M.L., Iwamatsu A., Esposito D., Gillette W.K., Hopkins R.F. III, Hartley J.L., Furihata M., Oishi S., Zhen W., Burke T.R. Jr., Linehan W.M., Schmidt L.S., Zbar B.
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Proc. Natl. Acad. Sci. U.S.A. 103:15552-15557(2006)

PubMed=18206534; DOI=10.1016/j.cancergencyto.2007.10.010
Yang Y.-F., Padilla-Nash H.M., Vira M.A., Abu-Asab M.S., Val D., Worrell R.A., Tsokos M.G., Merino M.J., Pavlovich C.P., Ried T., Linehan W.M., Vocke C.D.
The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dube gene pathway.
Cancer Genet. Cytogenet. 180:100-109(2008)

Cross-references
Cell line databases/resources cancercelllines; CVCL_S717
SKY/M-FISH/CGH; 5607
Encyclopedic resources Wikidata; Q54991414
Entry history
Entry creation03-Feb-2014
Last entry update05-Oct-2023
Version number13