@article{dd32c9f4645a47d4a74375fe22860c8a,
title = "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",
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.",
author = "Carina Maranga and Carolina Pereira and Raposo, {Ana Cl{\'a}udia} and Adriana Vieira and Sofia Duarte and Bekman, {Evguenia P.} and In{\^e}s Milagre and {da Rocha}, {Sim{\~a}o Teixeira}",
note = "Funding Information: We are grateful to the anonymous parents of the AS paediatric patient for the generous gift of the skin biopsy. This work is funded by national funds from FCT - Funda{\c c}{\~a}o para a Ci{\^e}ncia 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 Jo{\~a}o 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 Jos{\'e} de Mello Costa Duarte grant by Funda{\c c}{\~a}o Am{\'e}lia 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. Funding Information: We are grateful to the anonymous parents of the AS paediatric patient for the generous gift of the skin biopsy. This work is funded by national funds from FCT - Funda??o para a Ci?ncia 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 Jo?o 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 Jos? de Mello Costa Duarte grant by Funda??o Am?lia 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. Publisher Copyright: {\textcopyright} 2022 The Authors",
year = "2022",
month = may,
doi = "10.1016/j.scr.2022.102757",
language = "English",
volume = "61",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}