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Article

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Scientific reports - 3 Feb 2017

Grütz Karen, Seibler Philip, Weissbach Anne, Lohmann Katja, Carlisle Francesca A, Blake Derek J, Westenberger Ana, Klein Christine, Grünewald Anne

Abstract excerpt

In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. 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 ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting,...

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Source

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Identifiers

PMID: 28155872
DOI: 10.1038/srep41156
PMCID: PMC5290732

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.PMID 28155872Read ↗

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