Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients caused by heterozygous mutations in the HCN4 gene

Stem Cell Res. 2022 Dec:65:102951. doi: 10.1016/j.scr.2022.102951. Epub 2022 Oct 19.

Abstract

Dilated cardiomyopathy (DCM) is a progressive heart muscle disease that can culminate with heart failure and death. Mutations in several genes can cause DCM, including hyperpolarization-activated cyclic nucleotide-gated channel (HCN4), which has a critical function in the autonomic control of the heart rate. Here, we generated two human induced pluripotent stem cell (iPSC) lines generated from two DCM patients carrying variants in the HCN4 gene (c.2587G > T and c.2846G > A). Both lines display normal karyotype, typical morphology of pluripotent stem cells, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of DCM.

Keywords: Dilated cardiomyopathy; HCN4; Stem cells; iPSC.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cardiomyopathy, Dilated* / genetics
  • Humans
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / genetics
  • Induced Pluripotent Stem Cells*
  • Muscle Proteins / genetics
  • Potassium Channels / genetics

Substances

  • HCN4 protein, human
  • Muscle Proteins
  • Potassium Channels
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels