We are excited to announce the publication of the second scientific paper from our ASA-funded research project, now available in Human Cell.

In this study, led by Simão Rocha and colleagues, the team successfully generated three independent induced pluripotent stem cell (iPSC) lines derived from individuals with paternal uniparental disomy of chromosome 15 (patUPD15)—a rare genetic subtype of Angelman syndrome—as well as from their sex-matched parents.

This publication represents the first cellular portfolio for Angelman syndrome caused by patUPD15, providing an invaluable resource for advancing translational research and developing tailored therapeutic strategies for this understudied form of the disorder.

You can read the full article here: Link to Publication