• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Ser65Trp (c.194C>G); ClinVar=VCV000043597; Zygosity=Hemizygous (PubMed=10353251; PubMed=21258414).
  

PubMed=10353251; DOI=10.1038/20459
Patrick Henry Maxwell, Michael S. Wiesener, Gin-Wen Chang, Steven C. Clifford, Emma C. Vaux, Matthew E. Cockman, Charles C. Wykoff, Christopher W. Pugh, Eamonn R. Maher, Peter John Ratcliffe;
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
Nature 399:271-275(1999)

PubMed=21258414; DOI=10.1038/onc.2010.638
Aurelie Perier, Giulia Fregni, Sebastian Wittnebel, Soliman Gad, Mathilde Allard, Nadine Gervois-Segain, Bernard J. Escudier, Bruno Azzarone, Anne Caignard;
Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma.
Oncogene 30:2622-2632(2011)

PubMed=22949125; DOI=10.1002/ijc.27822
Rafal Pawlowski, Sarah M. Muhl, Tullio Sulser, Wilhelm Krek, Holger Moch, Peter Schraml;
Loss of PBRM1 expression is associated with renal cell carcinoma progression.
Int. J. Cancer 132:E11-E17(2013)

PubMed=27993170; DOI=10.1186/s12943-016-0565-8; PMCID=PMC5168717
Klaudia Klarysa Brodaczewska, Cezary Szczylik, Michal Fiedorowicz, Camillo Porta, Anna Malgorzata Czarnecka;
Choosing the right cell line for renal cell cancer research.
Mol. Cancer 15:83.1-83.15(2016)

PubMed=28489074; DOI=10.1038/ncomms15165; PMCID=PMC5436135
Rileen Sinha, Andrew G. Winer, Michael Stephen Chevinsky, Christopher Jakubowski, Ying-Bei Chen, Yi-Yu Dong, Satish K. Tickoo, Victor E. Reuter, Paul Russo, Jonathan A. Coleman, Chris Sander ...Show all 13 authors... , James J.-D. Hsieh, Abraham Ari Hakimi; Show fewer authors
Analysis of renal cancer cell lines from two major resources enables genomics-guided cell line selection.
Nat. Commun. 8:15165.1-15165.10(2017)

PubMed=30894373; DOI=10.1158/0008-5472.CAN-18-2747; PMCID=PMC6445675
Julie Dutil, Zhi-Hua Chen, Alvaro N.A. Monteiro, Jamie K. Teer, Steven A. Eschrich;
An interactive resource to probe genetic diversity and estimated ancestry in cancer cell lines.
Cancer Res. 79:1263-1273(2019)

PubMed=31068700; DOI=10.1038/s41586-019-1186-3; PMCID=PMC6697103
Mahmoud Ghandi, Franklin W. Huang, Judit Jane-Valbuena, Gregory V. Kryukov, Christopher C. Lo, E. Robert McDonald 3rd, Jordi Ginesta Barretina, Ellen T. Gelfand, Craig M. Bielski, Hao-Xin Li, Kevin Hu ...Show all 68 authors... , Alexander Y. Andreev-Drakhlin, Jaegil Kim, Julian M. Hess, Brian J. Haas, Francois Aguet, Barbara A. Weir, Michael V. Rothberg, Brenton R. Paolella, Michael Scott Lawrence, Rehan Akbani, Yi-Ling Lu, Hong L. Tiv, Prafulla C. Gokhale, Antoine de Weck, Ali Amin Mansour, Coyin Oh, Juliann Shih, Kevin Hadi, Yanay Rosen, Jonathan Bistline, Kavitha Venkatesan, Anupama Reddy, Dmitriy Sonkin, Manway Liu, Joseph Lehar, Joshua M. Korn, Dale A. Porter, Michael D. Jones, Javad Golji, Giordano Caponigro, Jordan E. Taylor, Caitlin M. Dunning, Amanda L. Creech, Allison C. Warren, James M. McFarland, Mahdi Zamanighomi, Audrey Kauffmann, Nicolas Stransky, Marcin Imielinski, Yosef E. Maruvka, Andrew D. Cherniack, Aviad Tsherniak, Francisca Vazquez, Jacob D. Jaffe, Andrew Alan Lane, David M. Weinstock, Cory M. Johannessen, Michael P. Morrissey, Frank Stegmeier, Robert Schlegel, William Chun Hahn, Gad Getz, Gordon B. Mills, Jesse S. Boehm, Todd Robert Golub, Levi Alexander Garraway, William Raj Sellers; Show fewer authors
Next-generation characterization of the Cancer Cell Line Encyclopedia.
Nature 569:503-508(2019)