Cellosaurus cell line UKAi008-C (CVCL_A5ND)

• Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 25941; TET2; Simple; p.Leu34Phe (c.100C>T); ClinVar=VCV000135308; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 25941; TET2; Simple; p.Val218Met (c.652G>A); ClinVar=VCV000135321; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 25941; TET2; Simple; p.Ile1762Val (c.5284A>G); ClinVar=VCV000135287; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 25941; TET2; Simple; p.His1778Arg (c.5333A>G); ClinVar=VCV000135289; Zygosity=Heterozygous (PubMed=33512435).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Homozygous (PubMed=33512435).
  

PubMed=33512435; DOI=10.1182/blood.2019004509
de Toledo M.A.S., Gatz M., Sontag S., Gleixner K.V., Eisenwort G., Feldberg K., Hamouda A.E.I., Kluge F., Guareschi R., Rossetti G., Sechi A.S., Dufva O.M.J., Mustjoki S.M., Maurer A., Schuler H.M., Goetzke R., Braunschweig T., Kaiser A., Panse J., Jawhar M., Reiter A., Hilberg F., Ettmayer P., Wagner W., Koschmieder S., Brummendorf T.H., Valent P., Chatain N., Zenke M.
Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis.
Blood 137:2070-2084(2021)