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A South Asian Indian PRKAG2 patient-derived induced pluripotent stem cell (iPSC) line to model glycogen storage-associated hypertrophic cardiomyopathy

  • 1Cardiovascular Development and Disease Mechanisms, Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem), Bengaluru, India; Regional Centre for Biotechnology, NCR Biotech Science Cluster, Faridabad 121001, India.
  • 2Cardiovascular Development and Disease Mechanisms, Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem), Bengaluru, India; National Centre for Biological Sciences, Tata Institute of Fundamental Research, GKVK Campus, Bangalore, India.
  • 3Cardiovascular Development and Disease Mechanisms, Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem), Bengaluru, India.
  • 4Center for Hypertrophic Cardiomyopathy, Amrita Institute of Medical Sciences, Amrita Viswa Vidyapeetham (Amrita University), Kochi, India.
  • 5Cardiovascular Development and Disease Mechanisms, Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem), Bengaluru, India. Electronic address: dhan@instem.res.in.
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June 14, 2025

Abstract

PRKAG2 is the ɣ2 regulatory subunit of the 5' AMP-activated protein kinase involved in cellular ATP metabolic regulation. Mutations in the PRKAG2 gene are known to cause glycogen storage-associated hypertrophic cardiomyopathy (HCM). We identified a South Asian Indian patient with HCM harbouring the PRKAG2 c. 905 G > A (p. R302Q) and generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMCs). The generated iPSC line displayed embryonic stem cell morphology, pluripotency markers, normal karyotype, and differentiated into three germ layers. This Indian patient-specific iPSC line will help in understanding the ancestry-specific differences in the pathophysiology of HCM.