# name
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A

# metadata.dc.description.abstract[].value
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.

# metadata.dc.rights[].value
cc by-nc-nd (c) Martínez Moreno, Rebecca et al., 2022

# metadata.dc.source[].value
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

# metadata.dc.title[].value
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A