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Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted <jats:italic>\u03b5-sarcoglycan (SGCE<\/jats:italic>) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation. DNA sequencing with methylation-specific primers and cDNA analysis in patient neurons indicated selective expression of the mutated paternal <jats:italic>SGCE<\/jats:italic> allele. While fibroblasts only expressed the ubiquitous mRNA isoform, brain-specific <jats:italic>SGCE<\/jats:italic> mRNA and \u03b5-sarcoglycan protein were detected in iPSC-derived control neurons. However, neuronal protein levels were reduced in both mutants. Our phenotypic characterization highlights the suitability of iPSC-derived cortical neurons with <jats:italic>SGCE<\/jats:italic> mutations for myoclonus-dystonia research and, in more general terms, prompts the use of iPSC-derived cellular models to study epigenetic mechanisms impacting on health and disease.<\/jats:p>","DOI":"10.1038\/srep41156","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T12:50:52Z","timestamp":1486126252000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia"],"prefix":"10.1038","volume":"7","author":[{"given":"Karen","family":"Gr\u00fctz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Seibler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Weissbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca A.","family":"Carlisle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek J.","family":"Blake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"BFsrep41156_CR1","doi-asserted-by":"publisher","first-page":"5970","DOI":"10.1523\/JNEUROSCI.4441-10.2011","volume":"31","author":"P Seibler","year":"2011","unstructured":"Seibler, P. et al. 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