Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect


Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from skin fibroblasts of a patient with AS, who, due to an imprinting defect, lacked DNA methylation at the chromosome 15 imprinting center, which controls maternal-specific expression of UBE3A. Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Neureiter A, Brändl B, Hiber M, Tandon R, Müller FJ, Steenpass L
Journal Stem cell research
Publication Date 2018 Dec;33:20-24
PubMed 30296670
DOI 10.1016/j.scr.2018.09.015

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