Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/188702
Title: | Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A |
Author: | Martínez Moreno, Rebecca Carreras, David Aran, Begoña Kuebler, Bernd Sarquella Brugada, Georgia Brugada, Ramon Pérez, Guillermo J. Scornik, Fabiana S. Selga, Elisabet |
Keywords: | Cèl·lules mare Malalties cardiovasculars Malalties hereditàries Stem cells Cardiovascular diseases Genetic diseases |
Issue Date: | 1-Aug-2022 |
Publisher: | Elsevier BV |
Abstract: | Patient-derived induced pluripotent stem cells (iPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of three family members carrying a single nucleotide variant (SNV) in SCN5A, which encodes the cardiac-type sodium channel, and of a related healthy control. The SNV SCN5A_c.4573G > A had been previously identified in a Brugada Syndrome patient. The resulting iPS cell lines differentiate into cells of the 3 germ layers, display normal karyotypes and express pluripotency surface markers and genes. Thus, they are a reliable source to study the effect of the identified mutation in a physiologically relevant environment. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2022.102847 |
It is part of: | Stem Cell Research, 2022, vol. 63, p. 102847 |
URI: | http://hdl.handle.net/2445/188702 |
Related resource: | https://doi.org/10.1016/j.scr.2022.102847 |
ISSN: | 1873-5061 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
1-s2.0-S1873506122001969-main.pdf | 3.6 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License