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

Carina Maranga, Carolina Pereira, Ana Cláudia Raposo, Adriana Vieira, Sofia Duarte, Evguenia P. Bekman, Inês Milagre, Simão Teixeira da Rocha*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number102757
JournalStem Cell Research
Volume61
DOIs
Publication statusPublished - May 2022
Externally publishedYes

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