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

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• 作者：Senquan Liu^a ; ^b ; ^c ; ¹ ; Zhaohui Ye^b ; ^c ; ¹ ; Yongxing Gao^b ; ^c ; Chaoxia He^b ; ^c ; Donna W Williams^b ; Alison Moliterno^b ; Jerry Spivak^b ; He Huang^a ; ^{huanghe@zju.edu.cn} ; Linzhao Cheng^b ; ^c ;
• 刊名：Stem Cell Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：18
• 期：Complete
• 页码：57-59
• 全文大小：579 K
• 卷排序：18

文摘

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.