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Author (up) Chamberlain, S.J.; Germain, N.D.; Chen, P.-F.; Hsiao, J.S.; Glatt-Deeley, H. url  doi
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  Title Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells Type Journal Article
  Year 2016 Publication Methods in Molecular Biology (Clifton, N.J.) Abbreviated Journal Methods Mol Biol  
  Volume 1353 Issue Pages 45-64  
  Keywords Alleles; Animals; Cell Differentiation; Cells, Cultured; DNA Copy Number Variations; DNA Methylation; DNA Primers/chemical synthesis/metabolism; *Epigenesis, Genetic; Feeder Cells/cytology; Fibroblasts/cytology; *Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence/methods; Induced Pluripotent Stem Cells/*metabolism/pathology; Mice; *Models, Genetic; Polymerase Chain Reaction/methods; Prader-Willi Syndrome/diagnosis/*genetics/pathology; RNA/genetics/metabolism; RNA, Small Nucleolar/genetics/metabolism; Ubiquitin-Protein Ligases/genetics/metabolism; Allele-specific PCR; DNA methylation; Genomic imprinting; Induced pluripotent stem cells; Rna Fish  
  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.  
  Address University of Connecticut Health Center, 400 Farmington Avenue, Farmington, CT, 06030-6403, USA  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1064-3745 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25520291 Approved no  
  Call Number refbase @ user @ Serial 16791  
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