ID   UOK257-2
AC   CVCL_1D69
DR   cancercelllines; CVCL_1D69
DR   Wikidata; Q54991415
RX   PubMed=17028174;
WW   https://www.bhdsyndrome.org/for-researchers/what-is-bhd/cell-lines-and-model-organisms-for-studying-bhd-syndrome/cell-lines/
CC   Characteristics: Transfection of wildtype FLCN corrects the defects of this gene in the cell line (PubMed=17028174).
CC   Sequence variation: Mutation; HGNC; HGNC:27310; FLCN; Simple; p.His429Profs*27 (c.1285dupC) (1733insC); ClinVar=VCV000003363; Zygosity=Hemizygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:27310; FLCN.
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
DI   NCIt; C28244; Birt-Hogg-Dube syndrome
DI   ORDO; Orphanet_122; Birt-Hogg-Dube syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_S717 ! UOK257
SX   Male
AG   46Y
CA   Cancer cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
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RX   PubMed=17028174; DOI=10.1073/pnas.0603781103; PMCID=PMC1592464;
RA   Baba M., Hong S.-B., Sharma N., Warren M.B., Nickerson M.L.,
RA   Iwamatsu A., Esposito D., Gillette W.K., Hopkins R.F. 3rd,
RA   Hartley J.L., Furihata M., Oishi S., Zhen W., Burke T.R. Jr.,
RA   Linehan W.M., Schmidt L.S., Zbar B.;
RT   "Folliculin encoded by the BHD gene interacts with a binding protein,
RT   FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.";
RL   Proc. Natl. Acad. Sci. U.S.A. 103:15552-15557(2006).
//