Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3 Δ 25bp variant

Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopathy and heart failure. Previously, we identified a recurrent...

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Veröffentlicht in:Stem cell research 2022-12, Vol.65, p.102978
Hauptverfasser: Chimata, Prasanth, Kashyap, Deepak K, Sairam, Thiagarajan, Ganesh, Akshayaa, Thangaraj, Kumarasamy, Purushottam, Meera, Viswanath, Biju, Jain, Sanjeev, Dhandapany, Perundurai S
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creator Chimata, Prasanth
Kashyap, Deepak K
Sairam, Thiagarajan
Ganesh, Akshayaa
Thangaraj, Kumarasamy
Purushottam, Meera
Viswanath, Biju
Jain, Sanjeev
Dhandapany, Perundurai S
description Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopathy and heart failure. Previously, we identified a recurrent MYBPC3 deletion (25 base pairs) among South Asians associated with cardiomyopathy and heart failure. Here, we generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMC) from an Indian harboring MYBPC3 deletion. This iPSC line displayed embryonic stem cell morphology, expressed pluripotency markers, differentiated into three germ layers and exhibited normal karyotype.
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title Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3 Δ 25bp variant
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