Work

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

Year: 2025

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103747

Authors: Saptashwa Chakrabarti, Harshil Chittora, Pratul Kumar Jain, Hisham Ahamed, Perundurai S. Dhandapany

Institutions: Institute for Stem Cell Biology and Regenerative Medicine, Regional Centre for Biotechnology, Tata Institute of Fundamental Research, National Centre for Biological Sciences, Amrita Vishwa Vidyapeetham

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360