Cellosaurus cell line Ma-Mel-06 (CVCL_A119)

• Gene deletion; HGNC; 1787; CDKN2A; Zygosity=Homozygous (PubMed=20544847).
  
• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=16827748; PubMed=17311103; PubMed=23348503; PubMed=23851445).
  
• Mutation; HGNC; 11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=16827748; DOI=10.1111/j.1600-0749.2006.00322.x
Hoek K.S., Schlegel N.C., Brafford P., Sucker A., Ugurel S., Kumar R., Weber B.L., Nathanson K.L., Phillips D.J., Herlyn M., Schadendorf D., Dummer R.
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature.
Pigment Cell Res. 19:290-302(2006)

PubMed=17311103; DOI=10.1371/journal.pone.0000236
Ugurel S., Thirumaran R.K., Bloethner S., Gast A., Sucker A., Mueller-Berghaus J., Rittgen W., Hemminki K., Becker J.C., Kumar R., Schadendorf D.
B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PLoS ONE 2:E236-E236(2007)

PubMed=20544847; DOI=10.1002/gcc.20785
Gast A., Scherer D., Chen B.-W., Bloethner S., Melchert S., Sucker A., Hemminki K., Schadendorf D., Kumar R.
Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.
Genes Chromosomes Cancer 49:733-745(2010)

PubMed=23348503; DOI=10.1126/science.1230062
Horn S., Figl A., Rachakonda P.S., Fischer C., Sucker A., Gast A., Kadel S., Moll I., Nagore E., Hemminki K., Schadendorf D., Kumar R.
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)

PubMed=23851445; DOI=10.1158/1541-7786.MCR-13-0006
Dahl C., Christensen C., Jonsson G., Lorentzen A., Skjodt M.L., Borg A., Pawelec G., Guldberg P.
Mutual exclusivity analysis of genetic and epigenetic drivers in melanoma identifies a link between p14 ARF and RARbeta signaling.
Mol. Cancer Res. 11:1166-1178(2013)