J Genet Med.  2012 Dec;9(2):67-72. 10.5734/JGM.2012.9.2.67.

Modeling of Human Genetic Diseases Via Cellular Reprogramming

  • 1Graduate school of Medical science and Engineering, KAIST, Daejeon, Korea. ymhan@kaist.ac.kr
  • 2Department of Biological Sciences, KAIST, Daejeon, Korea.


The generation of induced pluripotent stem cells (iPSCs) derived from patients' somatic cells provides a new paradigm for studying human genetic diseases. Human iPSCs which have similar properties of human embryonic stem cells (hESCs) provide a powerful platform to recapitulate the disease-specific cell types by using various differentiation techniques. This promising technology has being realized the possibility to explore pathophysiology of many human genetic diseases at the molecular and cellular levels. Furthermore, disease-specific human iPSCs can also be used for patient-based drug screening and new drug discovery at the stage of the pre-clinical test in vitro. In this review, we summarized the concept and history of cellular reprogramming or iPSC generation and highlight recent progresses for disease modeling using patient-specific iPSCs.


Nuclear Reprogramming; Induced pluripotent stem cells; Genetic diseases
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