• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=7691885).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=7691885).
  

PubMed=3131594; DOI=10.1016/0145-2126(88)90050-1
Joseph H. Butterfield, Deborah A. Weiler, Gordon W. Dewald, Gerald Joseph Gleich;
Establishment of an immature mast cell line from a patient with mast cell leukemia.
Leuk. Res. 12:345-355(1988)

PubMed=7691885; DOI=10.1172/JCI116761; PMCID=PMC288334
Takuma Furitsu, Tohru Tsujimura, Toshiharu Tono, Hirokazu Ikeda, Hitoshi Kitayama, Uichi Koshimizu, Hiroyuki Sugahara, Joseph H. Butterfield, Leonie K. Ashman, Yoshio Kanayama, Yuji Matsuzawa ...Show all 13 authors... , Yukihiko Kitamura, Yuzuru Kanakura; Show fewer authors
Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.
J. Clin. Invest. 92:1736-1744(1993)

PubMed=8191224; DOI=10.1111/j.1365-3083.1994.tb03404.x
Gunnar Nilsson, Thomas Blom, Marion Kusche-Gullberg, Lena Kjellen, Joseph H. Butterfield, Christer Sundstrom, Kenneth Nilsson, Lars Hellman;
Phenotypic characterization of the human mast-cell line HMC-1.
Scand. J. Immunol. 39:489-498(1994)

PubMed=8950460; DOI=10.1007/BF02505297
Sylvia Weber, Magda Babina, Sabine Kruger-Krasagakes, Andreas Grutzkau, Beate M. Henz;
A subclone (5C6) of the human mast cell line HMC-1 represents a more differentiated phenotype than the original cell line.
Arch. Dermatol. Res. 288:778-782(1996)

DOI=10.1016/B978-0-12-221970-2.50457-5
Hans Gunther Drexler;
The leukemia-lymphoma cell line factsbook.
(In book) ISBN 9780122219702; pp.1-733; Academic Press; London; United Kingdom (2001)

PubMed=16957166; DOI=10.1369/jhc.6A7001.2006; PMCID=PMC3958123
Ann-Catrin Andersson, Sara Stromberg, Helena Backvall, Caroline Kampf, Mathias Uhlen, Kenneth Wester, Fredrik Ponten;
Analysis of protein expression in cell microarrays: a tool for antibody-based proteomics.
J. Histochem. Cytochem. 54:1413-1423(2006)

PubMed=25149487; DOI=10.1007/978-1-4939-1173-8_8
Egle Passante;
Mast cell and basophil cell lines: a compendium.
Methods Mol. Biol. 1192:101-113(2014)