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Induced pluripotent stem cells (iPSCs) were first described over a decade ago and are currently used in various basic biology and clinical research fields. Recent advances in the field of human iPSCs have opened the way to a better understanding of the biology of human diseases. Disease-specific iPSCs provide an unparalleled opportunity to establish novel human cell-based disease models, with the potential to enhance our understanding of the molecular mechanisms underlying human malignancies, and to accelerate the identification of effective new drugs. When combined with genome editing technologies, iPSCs represent a new approach to study single or multiple disease-causing mutations and model specific diseases in vitro. In addition, genetically corrected patient-specific iPSCs could potentially be used for stem cell based therapy. Furthermore, the reprogrammed cells share patient-specific genetic background, offering a new platform to develop personalized therapy/medicine for patients. In this review we discuss the recent advances in iPSC research technology and their potential applications in hematological diseases. Somatic cell reprogramming has presented new routes for generating patient-derived iPSCs, which can be differentiated to hematopoietic stem cells and the various downstream hematopoietic lineages. iPSC technology shows promise in the modeling of both inherited and acquired hematological disorders. A direct reprogramming and differentiation strategy is able to recapitulate hematological disorder progression and capture the earliest molecular alterations that underlie the initiation of hematological malignancies.

Original publication




Journal article


Adv Biol Regul

Publication Date





19 - 33


Drug discovery, Hematological disorders, Induced pluripotent stem cells, Mutations, Myelodysplastic syndromes, Reprogramming