• Mutation; HGNC; HGNC:6193; JAK3; Simple; p.Gln501His (c.1503G>T); ClinVar=VCV000376114; Zygosity=Heterozygous (PubMed=18397343).
  
• Mutation; HGNC; HGNC:6193; JAK3; Simple; p.Arg657Gln (c.1970G>A); ClinVar=VCV000376113; Zygosity=Heterozygous (PubMed=18397343).
  

CLPUB00414
Akiko Higashitani, Shinkichi Yokoyama, Yukitoshi Shimizu, Michihiko Katsuura, Kaori Akiba, Tetsuo Mitui, Mikiya Endo, Toshinuki Takano, Tadashi Hayashi;
Establishment of megakaryoblastic leukemia cell line MG-S.
Nihon Shonika Gakkai Zasshi 99:920-928(1995)

PubMed=7647001; DOI=10.1111/j.1365-2141.1995.tb05591.x
Etsuro Ito, Mikio Kasai, Yasuhide Hayashi, Tsutomu Toki, Koji Arai, Shinkichi Yokoyama, Koji Kato, Naoki Tachibana, Masayuki Yamamoto, Masaru Yokoyama;
Expression of erythroid-specific genes in acute megakaryoblastic leukaemia and transient myeloproliferative disorder in Down's syndrome.
Br. J. Haematol. 90:607-614(1995)

PubMed=8558913
Sei Morita, Shigeru Tsuchiya, Hiromi Fujie, Masayuki Itano, Yoshiyuki Ohashi, Masayoshi Minegishi, Masue Imaizumi, Mikiya Endo, Nagako Takano, Tasuke Konno;
Cell surface c-kit receptors in human leukemia cell lines and pediatric leukemia: selective preservation of c-kit expression on megakaryoblastic cell lines during adaptation to in vitro culture.
Leukemia 10:102-105(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=18397343; DOI=10.1111/j.1365-2141.2008.07081.x
Tomohiko Sato, Tsutomu Toki, Rika Kanezaki, Gang Xu, Kiminori Terui, Hirokazu Kanegane, Masayoshi Miura, Souichi Adachi, Masahiro Migita, Shingo Morinaga, Takahide Nakano ...Show all 16 authors... , Mikiya Endo, Seiji Kojima, Hitoshi Kiyoi, Hiroyuki Mano, Etsuro Ito; Show fewer authors
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
Br. J. Haematol. 141:681-688(2008)