2. Academic Validation
  3. Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing

Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing

  • Stem Cell Res. 2021 Oct:56:102544. doi: 10.1016/j.scr.2021.102544.
Robert J Barndt 1,  Ning Ma 2,  Ying Tang 1,  Michael P Haugh 3,  Laila S Alamri 3,  Stephen Y Chan 4,  Haodi Wu 5
Affiliations

Affiliations

  • 1 Pittsburgh Heart, Lung, Blood Vascular Medicine Institute, University of Pittsburgh School of Medicine, PA, USA.
  • 2 Bioland Laboratory (Guangzhou Regenerative Medicine and Health Guangdong Laboratory), Guangzhou, Guangdong 510320, China.
  • 3 Department of Bioengineering, University of Pittsburgh Swanson School of Engineering, PA, USA.
  • 4 Pittsburgh Heart, Lung, Blood Vascular Medicine Institute, University of Pittsburgh School of Medicine, PA, USA; Division of Cardiology, Department of Medicine, University of Pittsburgh School of Medicine, PA, USA.
  • 5 Pittsburgh Heart, Lung, Blood Vascular Medicine Institute, University of Pittsburgh School of Medicine, PA, USA; Department of Bioengineering, University of Pittsburgh Swanson School of Engineering, PA, USA; Division of Cardiology, Department of Medicine, University of Pittsburgh School of Medicine, PA, USA. Electronic address: [email protected].
PMID: 34583280 DOI: 10.1016/j.scr.2021.102544
Abstract

As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM. Here, we introduced a PLN-R9C mutation in a healthy control induced pluripotent stem cell (iPSC) line using CRISPR/Cas9. The genome-edited iPSC line showed typical pluripotent cell morphology, robust expression of pluripotency markers, normal karyotype, and the capacity to differentiate into all three germ layers in vitro. The PLN-R9C iPSC line provides a valuable resource to dissect the molecular mechanisms underlying PLN mutation-related DCM.

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