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

Abstract：

: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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Neureiter A,Brändl B,Hiber M,Tandon R,Müller FJ,Steenpass L

doi

10.1016/j.scr.2018.09.015

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

20-24

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(18)30236-8

journal_volume

33

pub_type

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