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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.

Authors :
Maranga C
Pereira C
Raposo AC
Vieira A
Duarte S
Bekman EP
Milagre I
da Rocha ST
Source :
Stem cell research [Stem Cell Res] 2022 May; Vol. 61, pp. 102757. Date of Electronic Publication: 2022 Mar 21.
Publication Year :
2022

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.<br /> (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-7753
Volume :
61
Database :
MEDLINE
Journal :
Stem cell research
Publication Type :
Academic Journal
Accession number :
35339881
Full Text :
https://doi.org/10.1016/j.scr.2022.102757