Article
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.
Cell reports - 20 Oct 2015
Mulero-Navarro Sonia, Sevilla Ana, Roman Angel C, Lee Dung-Fang, D'Souza Sunita L, Pardo Sherly, Riess Ilan, Su Jie, Cohen Ninette, Schaniel Christoph, Rodriguez Nelson A, Baccarini Alessia, Brown Brian D, Cavé Hélène, Caye Aurélie, Strullu Marion, Yalcin Safak, Park Christopher Y, Dhandapany Perundurai S, Yongchao Ge, Edelmann Lisa, Bahieg Sawsan, Raynal Patrick, Flex Elisabetta, Tartaglia Marco, Moore Kateri A, Lemischka Ihor R, Gelb Bruce D
Abstract excerpt
Somatic PTPN11 mutations cause juvenile myelomonocytic leukemia (JMML). Germline PTPN11 defects cause Noonan syndrome (NS), and specific inherited mutations cause NS/JMML. Here, we report that hematopoietic cells differentiated from human induced pluripotent stem cells (hiPSCs) harboring NS/JMML-causing PTPN11 mutations recapitulated JMML features. hiPSC-derived NS/JMML myeloid cells exhibited increased signaling...
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