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Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene
Arrhythmogenie right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin p...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457924/ https://www.ncbi.nlm.nih.gov/pubmed/33743362 http://dx.doi.org/10.1016/j.scr.2021.102284 |
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author | Jahng, James W.S. Black, Katelyn E. Liu, Lichao Bae, Hye Ryeong Perez, Marco Ashley, Euan A. Sallam, Karim Wu, Joseph C. |
author_facet | Jahng, James W.S. Black, Katelyn E. Liu, Lichao Bae, Hye Ryeong Perez, Marco Ashley, Euan A. Sallam, Karim Wu, Joseph C. |
author_sort | Jahng, James W.S. |
collection | PubMed |
description | Arrhythmogenie right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients eanying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation. |
format | Online Article Text |
id | pubmed-8457924 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
record_format | MEDLINE/PubMed |
spelling | pubmed-84579242021-09-22 Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene Jahng, James W.S. Black, Katelyn E. Liu, Lichao Bae, Hye Ryeong Perez, Marco Ashley, Euan A. Sallam, Karim Wu, Joseph C. Stem Cell Res Article Arrhythmogenie right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients eanying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation. 2021-03-12 2021-05 /pmc/articles/PMC8457924/ /pubmed/33743362 http://dx.doi.org/10.1016/j.scr.2021.102284 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ). |
spellingShingle | Article Jahng, James W.S. Black, Katelyn E. Liu, Lichao Bae, Hye Ryeong Perez, Marco Ashley, Euan A. Sallam, Karim Wu, Joseph C. Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title | Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title_full | Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title_fullStr | Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title_full_unstemmed | Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title_short | Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene |
title_sort | generation of three induced pluripotent stem cell lines, scvii003-a, scvii004-a, scvii005-a, from patients with arvd/c caused by heterozygous mutations in the pkp2 gene |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457924/ https://www.ncbi.nlm.nih.gov/pubmed/33743362 http://dx.doi.org/10.1016/j.scr.2021.102284 |
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