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Article

Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.

Translational psychiatry - 25 Jul 2017

Nagy J, Kobolák J, Berzsenyi S, Ábrahám Z, Avci H X, Bock I, Bekes Z, Hodoscsek B, Chandrasekaran A, Téglási A, Dezső P, Koványi B, Vörös E T, Fodor L, Szél T, Németh K, Balázs A, Dinnyés A, Lendvai B, Lévay G, Román V

Abstract excerpt

The aim of the present study was to establish an in vitro Kleefstra syndrome (KS) disease model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. Patient specific hiPSCs generated from peripheral blood mononuclear cells...

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Identifiers

PMID: 28742076
DOI: 10.1038/tp.2017.144
PMCID: PMC5538124

Genes

EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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