Cellosaurus cell line BIN-67 (CVCL_S987)

• Mutation; HGNC; 11100; SMARCA4; Simple; c.2438+1G>A; ClinVar=VCV000537781; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=24658002; DepMap).
  
• Mutation; HGNC; 11100; SMARCA4; Simple; c.2439-2A>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=24658002; DepMap).
  

PubMed=2845729; DOI=10.1002/jbmr.5650010309
Upchurch K.S., Parker L.M., Scully R.E., Krane S.M.
Differential cyclic AMP responses to calcitonin among human ovarian carcinoma cell lines: a calcitonin-responsive line derived from a rare tumor type.
J. Bone Miner. Res. 1:299-304(1986)

PubMed=1331173; DOI=10.1172/JCI116046
Gorn A.H., Lin H.Y., Yamin M., Auron P.E., Flannery M.R., Tapp D.R., Manning C.A., Lodish H.F., Krane S.M., Goldring S.R.
Cloning, characterization, and expression of a human calcitonin receptor from an ovarian carcinoma cell line.
J. Clin. Invest. 90:1726-1735(1992)

PubMed=23433318; DOI=10.1186/1750-1172-8-33
Gamwell L.F., Gambaro K., Merziotis M., Crane C., Arcand S.L., Bourada V., Davis C., Squire J.A., Huntsman D.G., Tonin P.N., Vanderhyden B.C.
Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics.
Orphanet J. Rare Dis. 8:33.1-33.14(2013)

PubMed=24658002; DOI=10.1038/ng.2931
Witkowski L., Carrot-Zhang J., Albrecht S., Fahiminiya S., Hamel N., Tomiak E., Grynspan D., Saloustros E., Nadaf J., Rivera B., Gilpin C., Castellsague E., Silva-Smith R., Plourde F., Wu M., Saskin A., Arseneault M., Karabakhtsian R.G., Reilly E.A., Ueland F.R., Margiolaki A., Pavlakis K., Castellino S.M., Lamovec J., Mackay H.J., Roth L.M., Ulbright T.M., Bender T.A., Georgoulias V., Longy M., Berchuck A., Tischkowitz M., Nagel I., Siebert R., Stewart C.J.R., Arseneau J., McCluggage W.G., Clarke B.A., Riazalhosseini Y., Hasselblatt M., Majewski J., Foulkes W.D.
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Nat. Genet. 46:438-443(2014)