, Volume 9, Issue 4, pp 227–235

Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders

Review Article

DOI: 10.1007/s10048-008-0147-z

Cite this article as:
Chamberlain, S.J., Li, XJ. & Lalande, M. Neurogenetics (2008) 9: 227. doi:10.1007/s10048-008-0147-z


The recent discovery of genomic reprogramming of human somatic cells into induced pluripotent stem cells offers an innovative and relevant approach to the study of human genetic and neurogenetic diseases. By reprogramming somatic cells from patient samples, cell lines can be isolated that self-renew indefinitely and have the potential to develop into multiple different tissue lineages. Additionally, the rapid progress of research on human embryonic stem cells has led to the development of sophisticated in vitro differentiation protocols that closely mimic mammalian development. In particular, there have been significant advances in differentiating human pluripotent stem cells into defined neuronal types. Here, we summarize the experimental approaches employed in the rapidly evolving area of somatic cell reprogramming and the methodologies for differentiating human pluripotent cells into neurons. We also discuss how the availability of patient-specific fibroblasts offers a unique opportunity for studying and modeling the effects of specific gene defects on human neuronal development in vitro and for testing small molecules or other potential therapies for the relevant neurogenetic disorders.


Neurogenetic disordersInduced pluripotent cellsIn vitro differentiationNeuronal differentiation

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Stormy J. Chamberlain
    • 1
  • Xue-Jun Li
    • 2
  • Marc Lalande
    • 1
  1. 1.Department of Genetics and Developmental Biology, Stem Cell InstituteUniversity of Connecticut Health CenterFarmingtonUSA
  2. 2.Department of NeuroscienceUniversity of Connecticut Health CenterFarmingtonUSA