南亚印度PRKAG2患者衍生的诱导多能干细胞（iPSC）系用于模拟糖原储存相关的肥厚性心肌病

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-13 DOI:10.1016/j.scr.2025.103747

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

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引用次数: 0

摘要

PRKAG2是参与细胞ATP代谢调节的5 ' amp活化蛋白激酶的2调控亚基。已知PRKAG2基因突变可引起糖原储存相关的肥厚性心肌病（HCM）。我们确定了一名南亚印度HCM患者携带PRKAG2 c. 905g >；A (p. R302Q)，利用外周血单核细胞（PBMCs）生成诱导多能干细胞（iPSC）系。生成的iPSC细胞系表现出胚胎干细胞形态、多能性标记、正常核型，并分化为3种胚层。这个印度患者特异性iPSC细胞系将有助于理解HCM病理生理的谱系特异性差异。

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

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.