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dc.contributor.authorMekhoubad, Shila
dc.contributor.authorBock, Christoph
dc.contributor.authorde Boer, A. Sophie
dc.contributor.authorKiskinis, Evangelos
dc.contributor.authorMeissner, Alexander
dc.contributor.authorEggan, Kevin Carl
dc.date.accessioned2017-06-12T18:58:35Z
dc.date.issued2012
dc.identifier.citationMekhoubad, Shila, Christoph Bock, A. Sophie de Boer, Evangelos Kiskinis, Alexander Meissner, and Kevin Carl Eggan. 2012. “Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling.” Cell Stem Cell 10 (5): 595–609.en_US
dc.identifier.issn1934-5909en_US
dc.identifier.issn1875-9777en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:33010380
dc.description.abstractAlthough distinct human induced pluripotent stem cell (hiPSC) lines can display considerable epigenetic variation, it has been unclear whether such variability impacts their utility for disease modeling. Here, we show that although low-passage female hiPSCs retain the inactive X chromosome of the somatic cell they are derived from, over time in culture they undergo an “erosion” of X chromosome inactivation (XCI). This erosion of XCI is characterized by loss of XIST expression and foci of H3-K27-trimethylation, as well as transcriptional derepression of genes on the inactive X that cannot be reversed by either differentiation or further reprogramming. We specifically demonstrate that erosion of XCI has a significant impact on the use of female hiPSCs for modeling Lesch-Nyhan syndrome. However, our finding that most genes subject to XCI are derepressed by this erosion of XCI suggests that it should be a significant consideration when selecting hiPSC lines for modeling any disease.en_US
dc.description.sponsorshipStem Cell and Regenerative Biologyen_US
dc.language.isoen_USen_US
dc.publisherElsevier BVen_US
dc.relation.isversionofdoi:10.1016/j.stem.2012.02.014en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pubmed/22560080en_US
dash.licenseMETA_ONLY
dc.titleErosion of Dosage Compensation Impacts Human iPSC Disease Modelingen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalCell Stem Cellen_US
dash.depositing.authorEggan, Kevin Carl
dash.embargo.until10000-01-01
dc.identifier.doi10.1016/j.stem.2012.02.014*
workflow.legacycommentsEggan emailed 2016-04-20 MM Eggan emailed 2017-02-20 MM meta.darken_US
dash.authorsorderedfalse
dash.contributor.affiliatedKiskinis, Evangelos
dash.contributor.affiliatedMekhoubad, Shila
dash.contributor.affiliatedEggan, Kevin
dash.contributor.affiliatedMeissner, Alexander


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