Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg

Stem Cell Res. 2020 Mar:43:101720. doi: 10.1016/j.scr.2020.101720. Epub 2020 Feb 4.

Abstract

Human iPSC cell lines (FAMRCi004-A and FAMRCi004-B) were generated from patient with progressive cardiac conduction disease and sick sinus syndrome carrying DSP p.His1684Arg genetic variant. Patient-specific adipose tissue-derived mesenchymal multipotent stromal cells were reprogrammed using non-integrative Sendai viruses. Established iPSC lines showed normal karyotype, expressed pluripotent markers and were able to differentiate toward three germ layers in vitro. The reported iPSC lines could be useful tool for in vitro modeling of progressive cardiac conduction disease associated with mutations in desmosomal genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiac Conduction System Disease / genetics*
  • Cell Differentiation
  • Desmoplakins / genetics*
  • Heart Block / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*

Substances

  • DSP protein, human
  • Desmoplakins

Supplementary concepts

  • Hereditary bundle branch system defect