A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.

TitleA Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.
Publication TypeJournal Article
Year of Publication2017
AuthorsBell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TPan, Ernst C
JournalStem Cells Transl Med
Volume6
Issue3
Pagination886-896
Date Published2017 Mar
ISSN2157-6564
Abstract

The development of targeted therapeutics for rare neurodevelopmental disorders (NDDs) faces significant challenges due to the scarcity of subjects and the difficulty of obtaining human neural cells. Here, we illustrate a rapid, simple protocol by which patient derived cells can be reprogrammed to induced pluripotent stem cells (iPSCs) using an episomal vector and differentiated into neurons. Using this platform enables patient somatic cells to be converted to physiologically active neurons in less than two months with minimal labor. This platform includes a method to combine somatic cell reprogramming with CRISPR/Cas9 gene editing at single cell resolution, which enables the concurrent development of clonal knockout or knock-in models that can be used as isogenic control lines. This platform reduces the logistical barrier for using iPSC technology, allows for the development of appropriate control lines for use in rare neurodevelopmental disease research, and establishes a fundamental component to targeted therapeutics and precision medicine. Stem Cells Translational Medicine 2017;6:886-896.

DOI10.1002/sctm.16-0158
Alternate JournalStem Cells Transl Med
PubMed ID28170165
PubMed Central IDPMC5442775

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