Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.
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DOI: 10.1016/j.scr.2018.09.015
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… read more here.
Keywords: generation ipsc; due imprinting; imprinting defect; angelman syndrome ... See more keywords