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Human iPSC Models: A Platform for Investigating Neurodevelopmental Diseases | OMICS International | Abstract
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Review Article

Human iPSC Models: A Platform for Investigating Neurodevelopmental Diseases

Cindy E McKinney1* and Stephan L Brown1

1Stem Cell Program, Edward Via College of Osteopathic Medicine and Gibbs Cancer Center and Research Institute, Spartanburg, SC 29303, USA

Corresponding Author:
Cindy E McKinney
350 Howard Avenue,
Edward Via College of Osteopathic Medicine
Spartanburg, SC 29301, USA
Tel: +864-327-9876
Email: [email protected]

Received date: July 09, 2014; Accepted date: August 08, 2014; Published date:October 20, 2014

Citation: McKinney CE, Brown SL (2014) Human iPSC Models: A Platform for Investigating Neurodevelopmental Diseases. J Mol Genet Med 8:122. doi:10.4172/1747-0862.1000122

Copyright: © 2014 Kinney CEM, et al., This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Many human diseases arise as the result of DNA mutations in the patient’s genome. The neurodevelopmental diseases of early childhood have proven difficult to model due to lack of access to embryonic tissue and ethical concerns. Federal restrictions on the use of embryonic material also preclude studying some stages of neurodevelopmental disease. The onset of illness in utero or early childhood is frequently preceded by normal development of critical milestones. Recent work has led to methodologies to transform somatic cells to embryoniclike stem cells using four exogenous transcription factors. With this approach, it is now possible to validate the use of human induced pluripotent stem cells (hiPSCs) to model aspects of neurodevelopmental diseases using a patient’s donated cells or genome editing of hiPSC cells to contain known disease mutations. The reprogramming of somatic cells to hiPSC requires dedifferentiation and resetting of epigenetic signatures in the genome. The newest approaches are evaluating propagating the cells in three dimensions on artificial matrices to recapitulate regional neural cyto-architecture within the brain. Newer genome editing techniques that rely on site-specific sequence recognition by synthetic enzymes can be used to generate hiPSC neurodevelopmental disease models. A hiPSC disease model has several advantages, the patient’s own cells may be transduced to provide the investigative cell model and compared to other patient’s cells with the same disease. Additionally, a hiPSC model addresses some of the concerns about gene engineered animal models accurately recapitulating human disease since the model context is a patient-specific human cell line. Here we review the emerging use of hiPSC to model neurodevelopmental diseases.