Scalable production of mature neuronal subtypes from cerebellar organoids in dynamic 3D conditions to model Angelman Syndrome

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Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13

Publication . Maranga, Carina; Pereira, Carolina; Raposo, Ana Cláudia; Vieira, Adriana A.; Duarte, Sofia; Bekman, Evguenia; Milagre, Inês; da Rocha, Simão T.

Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characterized a new induced pluripotent stem cell (iPSC) line from a female child with Angelman syndrome harbouring a class II deletion. iPSCs were reprogrammed from fibroblasts using Sendai viruses. The new iPSCs express pluripotency markers, are capable of trilineage in vitro differentiation and have the expected imprinting status of Angelman syndrome. These iPSCs are a valuable tool to elucidate the pathophysiological mechanisms associated with this disease.

2022Artigo científico

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Entidade financiadora

Fundação para a Ciência e a Tecnologia

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OE

Número da atribuição

PD/BD/135505/2018