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Tytuł:
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Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants.
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Autorzy:
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Manhas A; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA.
Jahng JWS; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA.
Vera CD; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA.
Shenoy SP; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA.
Knowles JW; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA.
Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA, USA. Electronic address: .
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Źródło:
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Stem cell research [Stem Cell Res] 2022 May; Vol. 61, pp. 102774. Date of Electronic Publication: 2022 Mar 31.
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Typ publikacji:
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Journal Article; Research Support, N.I.H., Extramural
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Język:
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English
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Imprint Name(s):
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Original Publication: Kidlington, Oxford : Elsevier
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MeSH Terms:
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Cardiomyopathy, Hypertrophic*/pathology
Induced Pluripotent Stem Cells*/metabolism
AMP-Activated Protein Kinases/genetics ; Cytoskeletal Proteins/genetics ; Heterozygote ; Humans ; Mutation
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References:
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Circulation. 2019 Feb 5;139(6):799-811. (PMID: 30586709)
Circ Res. 2017 Sep 15;121(7):749-770. (PMID: 28912181)
Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003121. (PMID: 26729852)
Stem Cell Res. 2021 Nov 23;57:102605. (PMID: 34856468)
Cell Stem Cell. 2013 Jan 3;12(1):101-13. (PMID: 23290139)
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Grant Information:
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75N92020D00019 United States HL NHLBI NIH HHS; P01 HL141084 United States HL NHLBI NIH HHS; R01 HL126527 United States HL NHLBI NIH HHS; R01 HL130020 United States HL NHLBI NIH HHS
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Contributed Indexing:
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Keywords: Hypertrophic cardiomyopathy; Induced pluripotent stem cells; MYBPC3; and PRKAG2
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Substance Nomenclature:
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0 (Cytoskeletal Proteins)
EC 2.7.11.1 (PRKAG2 protein, human)
EC 2.7.11.31 (AMP-Activated Protein Kinases)
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Entry Date(s):
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Date Created: 20220412 Date Completed: 20220503 Latest Revision: 20221202
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Update Code:
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20240105
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PubMed Central ID:
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PMC9708393
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DOI:
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10.1016/j.scr.2022.102774
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PMID:
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35413566
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Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants.
(Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
