Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9

Stem Cell Res. 2023 Jun:69:103089. doi: 10.1016/j.scr.2023.103089. Epub 2023 Mar 30.

Abstract

SHOX2 is a homeobox transcription factor associated with atrial fibrillation (AF) and sinus node dysfunction. Here, we generated two homozygous SHOX2 knock-out hiPSC lines from a healthy control line and a corrected AF patient line (disease-specific SHOX2 mutation corrected to WT) using CRISPR/Cas9. These cell lines maintained pluripotency, an ability to differentiate into all three germlayers and a normal karyotype, presenting a valuable tool to investigate the impact of a full SHOX2 knock-out with respect to arrhythmogenic diseases on a cellular level.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Atrial Fibrillation* / genetics
  • CRISPR-Cas Systems / genetics
  • Cell Line
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Transcription Factors
  • SHOX2 protein, human
  • Homeodomain Proteins