Induced pluripotent stem cells in disease modeling and gene identification

Satish Kumar, John Blangero, Joanne E. Curran

Research output: Chapter in Book/Report/Conference proceedingChapter

22 Scopus citations


Experimental modeling of human inherited disorders provides insight into the cellular and molecular mechanisms involved, and the underlying genetic component influencing, the disease phenotype. The breakthrough development of induced pluripotent stem cell (iPSC) technology represents a quantum leap in experimental modeling of human diseases, providing investigators with a self-renewing and, thus, unlimited source of pluripotent cells for targeted differentiation. In principle, the entire range of cell types found in the human body can be interrogated using an iPSC approach. Therefore, iPSC technology, and the increasingly refined abilities to differentiate iPSCs into disease-relevant target cells, has far-reaching implications for understanding disease pathophysiology, identifying disease-causing genes, and developing more precise therapeutics, including advances in regenerative medicine. In this chapter, we discuss the technological perspectives and recent developments in the application of patient-derived iPSC lines for human disease modeling and disease gene identification.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press
Number of pages22
StatePublished - 2018
Externally publishedYes

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • Cellular reprogramming
  • Genetics
  • Human complex disease
  • iPSC

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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