Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene

Activating pointmutations in the MPL gene encoding the thrombopoietin receptor are found in 3%-10% of essential thrombocythemia (ET) and myelofibrosis patients. Here, we report the derivation of induced pluripotent stem cells (iPSCs) froman ET patientwith a heterozygous MPL V501Lmutation. Peripheral blood CD34(+) progenitor cellswere reprogrammed by transient plasmid expression of OCT4, SOX2, KLF4, c-MYC plus BCL2L1 (BCL-xL) genes. The derived lineM494 carries a MPL V501Lmutation, displays typical iPSCmorphology and characteristics, are pluripotent and karyotypically normal. Upon differentiation, the iPSCs are able to differentiate into cells derived from three germ layers. (C) 2016 The Authors. Published by Elsevier B.V.