iPSC modeling of rare pediatric disorders
Section snippets
Pluripotent cellular models for rare diseases – derivation and discrepancies
Before the development of iPSCs as a model system, pluripotent cell models were limited to embryonic stem cells (ESCs). ESCs are typically derived during early embryonic development and maintain indefinite pluripotent proliferation in cell culture settings (Thomson et al., 1998). ESCs were first derived from mouse blastocysts in 1981 (Evans and Kaufman, 1981; Jones and Thomson, 2000) and then later from human blastocysts in 1998 from the inner cell mass (ICM) of early-stage embryos (Thomson et
Conclusions
iPSCs offer a genetically unique, developmentally plastic, and niche model system for studying rare neurological diseases where patient neural tissue has limited availability or rodent models offer less than ideal utility. This model has been used for disease-causing mechanism discovery, differentiation assays, and drug developmental studies. The theoretically infinite proliferative capabilities of iPSCs, as well as their ability to generate cells from all three germ layers, makes them ideal
Acknowledgements
This research was supported by the National Institutes of Health (grant numbers P20GM103620 and P20GM103548).
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