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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: Transduction of wild type FLCN corrects the defects of this gene in the cell line (PubMed=17028174).
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:27310; FLCN.
Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
Sequence variations
  • Mutation; HGNC; 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
Publications

PubMed=17028174; DOI=10.1073/pnas.0603781103; PMCID=PMC1592464
Masaya Baba, Seung-Beom Hong, Nirmala Sharma, Michelle B. Warren, Michael L. Nickerson, Akihiro Iwamatsu, Dominic Esposito, William K. Gillette, Ralph F. Hopkins 3rd, James L. Hartley, Mutsuo Furihata ...Show all 17 authors... , Shinya Oishi, Wei Zhen, Terrence R. Burke Jr., William Marston Linehan, Laura S. Schmidt, Berton Zbar; Show fewer authors
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 update10-Apr-2025
Version number13