Abstract
Induced pluripotent stem cell (iPSC) technology has allowed for the invaluable modeling of many genetic disorders including disorders associated with genomic imprinting. Genomic imprinting involves differential DNA and histone methylation and results in allele-specific gene expression. Most of the epigenetic marks in somatic cells are erased and reestablished during the process of reprogramming into iPSCs. Therefore, in generating models of disorders associated with genomic imprinting, it is important to verify that the imprinting status and allele-specific gene expression patterns of the parental somatic cells are maintained in their derivative iPSCs. Here, we describe three techniques: DNA methylation analysis, allele-specific PCR, and RNA FISH, which we use to analyze genomic imprinting in iPSC models of neurogenetic disorders involving copy number variations of the chromosome 15q11–q13 region.
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Chamberlain, S.J., Germain, N.D., Chen, PF., Hsiao, J.S., Glatt-Deeley, H. (2014). Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells. In: Nagy, A., Turksen, K. (eds) Patient-Specific Induced Pluripotent Stem Cell Models. Methods in Molecular Biology, vol 1353. Humana Press, New York, NY. https://doi.org/10.1007/7651_2014_169
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DOI: https://doi.org/10.1007/7651_2014_169
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Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-3033-3
Online ISBN: 978-1-4939-3034-0
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