Author(s):
Maranga, Carina ; Pereira, Carolina ; Raposo, Ana Cláudia ; Vieira, Adriana A. ; Duarte, Sofia ; Bekman, Evguenia ; Milagre, Inês ; da Rocha, Simão T.
Date: 2022
Persistent ID: http://hdl.handle.net/10451/52230
Origin: Repositório da Universidade de Lisboa
Project/scholarship:
info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04565%2F2020/PT;
info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04565%2F2020/PT;
info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIA-MOL%2F29320%2F2017/PT;
info:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F135505%2F2018/PT;
info:eu-repo/grantAgreement/FCT/CEEC IND 2017/CEECIND%2F01234%2F2017%2FCP1396%2FCT0002/PT;
Description
© 2022 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).
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.
This work is funded by national funds from FCT - Fundação para a Ciência e a Tecnologia, I.P., in the scope of the projects UIDB/04565/2020 and UIDP/04565/2020 of Institute for Bioengineering and Biosciences – iBB, the project PTDC/BIA-MOL/29320/2017 of the Instituto de Medicina Molecular João Lobo Antunes and the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy - i4HB, as well by the Pedro Maria José de Mello Costa Duarte grant by Fundação Amélia de Mello. C. Maranga is supported by a PhD fellowship (PD/BD/135505/2018) and S.T. da Rocha is supported by an assistant research contract (CEECIND/01234/2017) from FCT.
