ID   UOK350
AC   CVCL_E7RE
RX   PubMed=33402335;
CC   Doubling time: 48-72 hours (Direct_author_submission).
CC   Sequence variation: Gene deletion; HGNC; HGNC:3700; FH; Zygosity=Heterozygous; Note=Spontaneous loss of heterozygosity (PubMed=33402335).
CC   Sequence variation: Mutation; HGNC; HGNC:3700; FH; Simple; p.Val322Gly (c.965T>G); ClinVar=VCV000214417; Zygosity=Heterozygous (PubMed=33402335).
CC   Miscellaneous: Doubling time and STR profile from personal communication of Yang, You-Feng.
CC   Derived from site: Metastatic; Pleural effusion; UBERON=UBERON_0000175.
ST   Source(s): Direct_author_submission
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 7,13
ST   D16S539: 9,13
ST   D18S51: 17,19
ST   D21S11: 32.2
ST   D3S1358: 14,16
ST   D5S818: 11,12
ST   D7S820: 10,13
ST   D8S1179: 10,14
ST   FGA: 25
ST   Penta D: 9,12
ST   Penta E: 10
ST   TH01: 7,9
ST   TPOX: 11
ST   vWA: 14,17
DI   NCIt; C51302; Hereditary leiomyomatosis and renal cell carcinoma
DI   ORDO; Orphanet_523; Hereditary leiomyomatosis and renal cell cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Cancer cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=33402335; DOI=10.1126/scisignal.abc4436; PMCID=PMC8039187;
RA   Crooks D.R., Maio N., Lang M., Ricketts C.J., Vocke C.D., Gurram S.,
RA   Turan S., Kim Y.-Y., Cawthon G.M., Sohelian F., de Val N., Pfeiffer R.M.,
RA   Jailwala P., Tandon M., Tran B., Fan T.W.-M., Lane A.N., Ried T.,
RA   Wangsa Zong D., Malayeri A.A., Merino M.J., Yang Y.-F., Meier J.L.,
RA   Ball M.W., Rouault T.A., Srinivasan R., Linehan W.M.;
RT   "Mitochondrial DNA alterations underlie an irreversible shift to
RT   aerobic glycolysis in fumarate hydratase-deficient renal cancer.";
RL   Sci. Signal. 14:eabc4436.1-eabc4436.18(2021).
//