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Cellosaurus UOK257-2 (CVCL_1D69)

[Text version]
Cell line name UOK257-2
Accession CVCL_1D69
Resource Identification Initiative To cite this cell line use: UOK257-2 (RRID:CVCL_1D69)
Comments Characteristics: Transfection of wildtype FLCN corrects the defects of this gene in the cell line (PubMed=17028174).
Transfected with: HGNC; 27310; FLCN.
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 (from parent cell line).
Disease Birt-Hogg-Dube syndrome (NCIt: C28244)
Birt-Hogg-Dube syndrome (ORDO: Orphanet_122)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_S717 (UOK257)
Sex of cell Male
Age at sampling 46Y
Category Cancer cell line
Web pages 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)

Cross-references
Cell line databases/resources cancercelllines; CVCL_1D69
Encyclopedic resources Wikidata; Q54991415
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number10