Cellosaurus cell line GIST48B (CVCL_M441)

• Mutation; HGNC; 6342; KIT; Simple; p.Asp820Ala (c.2459A>C); ClinVar=VCV000953798; Zygosity=Heterozygous (PubMed=19706776).
  
• Mutation; HGNC; 6342; KIT; Simple; p.Val560Asp (c.1679T>A); ClinVar=VCV000375914; Zygosity=Homozygous (PubMed=19706776).
  

PubMed=19706776; DOI=10.1158/0008-5472.CAN-08-4004
Muhlenberg T., Zhang Y.-X., Wagner A.J., Grabellus F., Bradner J., Taeger G., Lang H., Taguchi T., Schuler M., Fletcher J.A., Bauer S.
Inhibitors of deacetylases suppress oncogenic KIT signaling, acetylate HSP90, and induce apoptosis in gastrointestinal stromal tumors.
Cancer Res. 69:6941-6950(2009)

PubMed=25239608; DOI=10.1158/1078-0432.CCR-14-1397
Garner A.P., Gozgit J.M., Anjum R., Vodala S., Schrock A.B., Zhou T.-J., Serrano C., Eilers G., Zhu M.-J., Ketzer J., Wardwell S., Ning Y., Song Y., Kohlmann A., Wang F., Clackson T., Heinrich M.C., Fletcher J.A., Bauer S., Rivera V.M.
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
Clin. Cancer Res. 20:5745-5755(2014)

PubMed=29866822; DOI=10.1073/pnas.1802079115
Hemming M.L., Lawlor M.A., Zeid R., Lesluyes T., Fletcher J.A., Raut C.P., Sicinska E.T., Chibon F., Armstrong S.A., Demetri G.D., Bradner J.E.
Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome.
Proc. Natl. Acad. Sci. U.S.A. 115:E5746-E5755(2018)

PubMed=30488756; DOI=10.1080/15384101.2018.1553335
Tu Y.-Q., Zuo R., Ni N., Eilers G., Wu D.-L., Pei Y.-T., Nie Z.-M., Wu Y.-Q., Wu Y.-H., Ou W.-B.
Activated tyrosine kinases in gastrointestinal stromal tumor with loss of KIT oncoprotein expression.
Cell Cycle 17:2577-2592(2018)