Close
Close

Angelman syndrome

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

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

Stem Cell Res. 2018 Sep 24;33:20-24

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

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.

PMID: 30296670 [PubMed - as supplied by publisher]

Videos
by Abidemi Uruejoma
8 views
by Abidemi Uruejoma
40 views
by Abidemi Uruejoma
53 views
by Abidemi Uruejoma
77 views
Latest Research