Department of Biotechnology
inStem (Institute for Stem Cell Science and Regenerative Medicine)

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

Publication Type

Journal Article

Date of Publication

June 13, 2025

Journal

Stem cell research

Volume/Issue

87

ISSN

1876-7753

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.

Alternate Journal

Stem Cell Res

PubMed ID

40516147

PubMed Central ID

N/A

Authors

Chakrabarti S
Chittora H
Jain PK
Ahamed H
Dhandapany PS