Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A
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 chan...
| Autores: | , , , , , , , , |
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| Formato: | artículo |
| Fecha de publicación: | 2022 |
| País: | España |
| Recursos: | UVic-UCC |
| Repositorio: | RiUVic. Repositori institucional de la UVic-UCC |
| OAI Identifier: | oai:dspace.uvic.cat:10854/8078 |
| Acesso em linha: | http://hdl.handle.net/10854/8078 https://doi.org/10.1016/j.scr.2022.102717 |
| Access Level: | acceso abierto |
| Palavra-chave: | Sistema cardiovascular -- Malalties Cor -- Malalties |
| Resumo: | 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. |
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