Cellosaurus cell line HCT116-SN6 (CVCL_Y554)

• Mutation; HGNC; 173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
  
• Mutation; HGNC; 1101; BRCA2; Simple; p.Ile2675Aspfs*6 (c.8021dupA) (c.8021_8022insA); ClinVar=VCV000267050; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 1787; CDKN2A; Simple; p.Arg24Serfs*20 (c.68dupG) (c.68_69insG) (p.G23fs); Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 2514; CTNNB1; Simple; p.Ser45del (c.133_135delTCT); ClinVar=VCV000017576; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 3373; EP300; Simple; p.Met1470Cysfs*22 (c.4408delA); Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 3373; EP300; Simple; p.Asn1700Thrfs*9 (c.5099delA); Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 6407; KRAS; Simple; p.Gly13Asp (c.38G>A); ClinVar=VCV000012580; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 8975; PIK3CA; Simple; p.His1047Arg (c.3140A>G); ClinVar=VCV000013652; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 9277; PPM1D; Simple; p.Leu450Ter (c.1349delT) (p.Leu450fs) (c.1344delT); Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
  
• Mutation; HGNC; 11986; TOP1; Simple; p.Arg621His (c.1862G>A); Zygosity=Heterozygous (PubMed=21619602).
  
• Mutation; HGNC; 11986; TOP1; Simple; p.Glu710Gly (c.2129A>G); Zygosity=Heterozygous (PubMed=21619602).
  

PubMed=15027118; DOI=10.1002/ijc.20032
Candeil L., Gourdier I., Peyron D., Vezzio-Vie N., Copois V., Bibeau F., Orsetti B., Scheffer G.L., Ychou M., Khan Q.A., Pommier Y., Pau B., Martineau P., Del Rio M.
ABCG2 overexpression in colon cancer cells resistant to SN38 and in irinotecan-treated metastases.
Int. J. Cancer 109:848-854(2004)

PubMed=18340113; DOI=10.4161/cbt.7.6.5838
Gongora C., Candeil L., Vezzio-Vie N., Copois V., Denis V., Bareil C., Molina F., Fraslon C., Conseiller E., Pau B., Martineau P., Del Rio M.
Altered expression of cell proliferation-related and interferon-stimulated genes in colon cancer cells resistant to SN38.
Cancer Biol. Ther. 7:822-832(2008)

PubMed=21619602; DOI=10.1186/1476-4598-10-64
Gongora C., Vezzio-Vie N., Tuduri S., Denis V., Causse A., Auzanneau C., Collod-Beroud G., Coquelle A., Pasero P., Pourquier P., Martineau P., Del Rio M.
New topoisomerase I mutations are associated with resistance to camptothecin.
Mol. Cancer 10:64.1-64.13(2011)