title: Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene.
abstract: 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.
authors.affiliation: Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, PR China; Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Senquan
authors.initials: S
authors.lastname: Liu
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Yongxing
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Chaoxia
authors.initials: C
authors.lastname: He
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Donna W
authors.initials: DW
authors.lastname: Williams
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Alison
authors.initials: A
authors.lastname: Moliterno
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Jerry
authors.initials: J
authors.lastname: Spivak
authors.affiliation: Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, PR China. Electronic address: huanghe@zju.edu.cn.
authors.forename: He
authors.initials: H
authors.lastname: Huang
authors.affiliation: Division of Hematology, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Linzhao
authors.initials: L
authors.lastname: Cheng
mesh_terms: D018952:Antigens, CD34 / Q000378:metabolism; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D058732:Embryoid Bodies / Q000378:metabolism / Q000473:pathology; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D008856:Microscopy, Fluorescence; D020641:Polymorphism, Single Nucleotide; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013234:Stem Cells / Q000166:cytology / Q000378:metabolism; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D013920:Thrombocythemia, Essential / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D018952:Antigens, CD34; C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D053628:Receptors, Thrombopoietin; D014157:Transcription Factors; C082218:MPL protein, human