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 |
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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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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.</description><identifier>EISSN: 1876-7753</identifier><identifier>PMID: 36403549</identifier><language>eng</language><publisher>England</publisher><ispartof>Stem cell research, 2022-12, Vol.65, p.102978</ispartof><rights>Copyright © 2022 The Authors. Published by Elsevier B.V. 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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. 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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.</abstract><cop>England</cop><pmid>36403549</pmid></addata></record> |
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source | Elsevier ScienceDirect Journals Complete; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals |
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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