Activating point mutations 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) from an ET patient with a heterozygous MPL V501L mutation. Peripheral blood CD34+ progenitor cells were reprogrammed by transient plasmid expression of OCT4, SOX2, KLF4, c-MYC plus BCL2L1 (BCL-xL) genes. The derived line M494 carries a MPL V501L mutation, displays typical iPSC morphology and characteristics, are pluripotent and karyotypically normal. Upon differentiation, the iPSCs are able to differentiate into cells derived from three germ layers.
Liu, S., Ye, Z., Gao, Y., He, C., Williams, D. W., Moliterno, A., … Cheng, L. (2017). Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene. Stem Cell Research, 18, 57–59. https://doi.org/10.1016/j.scr.2016.12.012