Human Genetics Publications
Induced pluripotent stem cells in disease modeling and gene identification
Document Type
Book Chapter
Publication Date
1-1-2018
Abstract
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.
Recommended Citation
Kumar, S., Blangero, J., & Curran, J. E. (2018). Induced pluripotent stem cells in disease modeling and gene identification. In Disease gene identification: methods and protocols (pp. 17-38). New York, NY: Springer New York. https://doi.org/10.1007/978-1-4939-7471-9_2
First Page
17
Last Page
38
Publication Title
Methods in Molecular Biology
DOI
10.1007/978-1-4939-7471-9_2
