• Gene deletion; HGNC; HGNC:3700; FH; Zygosity=Heterozygous; Note=Spontaneous loss of heterozygosity (PubMed=19963135; PubMed=33402335).
  
• Mutation; HGNC; HGNC:3700; FH; Simple; p.Gln439Pro (c.1316A>C); ClinVar=VCV003230435; Zygosity=Heterozygous (PubMed=19963135; PubMed=33402335).
  

PubMed=19963135; DOI=10.1016/j.cancergencyto.2009.08.018; PMCID=PMC2827193
Yang Y.-F., Valera V.A., Padilla-Nash H.M., Sourbier C., Vocke C.D., Vira M.A., Abu-Asab M.S., Bratslavsky G., Tsokos M.G., Merino M.J., Pinto P.A., Srinivasan R., Ried T., Neckers L., Linehan W.M.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Cancer Genet. Cytogenet. 196:45-55(2010)

PubMed=21907923; DOI=10.1016/j.ccr.2011.07.018; PMCID=PMC3174047
Tong W.-H., Sourbier C., Kovtunovych G., Jeong S.Y., Vira M.A., Ghosh M., Romero V.V., Sougrat R., Vaulont S., Viollet B., Kim Y.-S., Lee S., Trepel J.B., Srinivasan R., Bratslavsky G., Yang Y.-F., Linehan W.M., Rouault T.A.
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
Cancer Cell 20:315-327(2011)

PubMed=22867999; DOI=10.1016/j.cancergen.2012.05.001; PMCID=PMC3415708
Yang Y.-F., Valera V.A., Sourbier C., Vocke C.D., Wei M.-H., Pike L., Huang Y., Merino M.J., Bratslavsky G., Wu M., Ricketts C.J., Linehan W.M.
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
Cancer Genet. 205:377-390(2012)

PubMed=27993170; DOI=10.1186/s12943-016-0565-8; PMCID=PMC5168717
Brodaczewska K.K., Szczylik C., Fiedorowicz M., Porta C., Czarnecka A.M.
Choosing the right cell line for renal cell cancer research.
Mol. Cancer 15:83.1-83.15(2016)

PubMed=33402335; DOI=10.1126/scisignal.abc4436; PMCID=PMC8039187
Crooks D.R., Maio N., Lang M., Ricketts C.J., Vocke C.D., Gurram S., Turan S., Kim Y.-Y., Cawthon G.M., Sohelian F., de Val N., Pfeiffer R.M., Jailwala P., Tandon M., Tran B., Fan T.W.-M., Lane A.N., Ried T., Wangsa Zong D., Malayeri A.A., Merino M.J., Yang Y.-F., Meier J.L., Ball M.W., Rouault T.A., Srinivasan R., Linehan W.M.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Sci. Signal. 14:eabc4436.1-eabc4436.18(2021)