A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15.

ABSTRACT: Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally inherited UBE3A gene within the chr15q11-q13 region. This gene is subjected to a tissue-specific form of genomic imprinting leading to the silencing of the paternal allele in neurons. Angelman syndrome can result from various (epi)genetic mechanisms, with paternal uniparental disomy of chromosome 15 (patUPD15) being one of the rarest and least studied due to the absence of suitable models. To address this gap, we generated three independent induced pluripotent stem cell (iPSC) lines from individuals with Angelman syndrome caused by patUPD15, alongside genetically matched unaffected familial controls. Peripheral blood mononuclear cells (PBMCs) were reprogrammed into iPSCs using a non-int

SUBMITTER: Cazaux Mateus F 

PROVIDER: S-EPMC12441060 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature