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

[摘要] 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.

[学科分类] 生理学