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http://hdl.handle.net/2445/188702
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DC Field | Value | Language |
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dc.contributor.author | Martínez Moreno, Rebecca | - |
dc.contributor.author | Carreras, David | - |
dc.contributor.author | Aran, Begoña | - |
dc.contributor.author | Kuebler, Bernd | - |
dc.contributor.author | Sarquella Brugada, Georgia | - |
dc.contributor.author | Brugada, Ramon | - |
dc.contributor.author | Pérez, Guillermo J. | - |
dc.contributor.author | Scornik, Fabiana S. | - |
dc.contributor.author | Selga, Elisabet | - |
dc.date.accessioned | 2022-09-05T08:52:21Z | - |
dc.date.available | 2022-09-05T08:52:21Z | - |
dc.date.issued | 2022-08-01 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | http://hdl.handle.net/2445/188702 | - |
dc.description.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. | - |
dc.format.extent | 5 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier BV | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2022.102847 | - |
dc.relation.ispartof | Stem Cell Research, 2022, vol. 63, p. 102847 | - |
dc.relation.uri | https://doi.org/10.1016/j.scr.2022.102847 | - |
dc.rights | cc by-nc-nd (c) Martínez Moreno, Rebecca et al., 2022 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Cèl·lules mare | - |
dc.subject.classification | Malalties cardiovasculars | - |
dc.subject.classification | Malalties hereditàries | - |
dc.subject.other | Stem cells | - |
dc.subject.other | Cardiovascular diseases | - |
dc.subject.other | Genetic diseases | - |
dc.title | Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2022-08-04T13:23:38Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 35772296 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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1-s2.0-S1873506122001969-main.pdf | 3.6 MB | Adobe PDF | View/Open |
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