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
Arrhythmogenic 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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-05-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121001306 |
| _version_ | 1818601819810562048 |
|---|---|
| author | James W.S. Jahng Katelyn E. Black Lichao Liu Hye Ryeong Bae Marco Perez Euan A. Ashley Karim Sallam Joseph C. Wu |
| author_facet | James W.S. Jahng Katelyn E. Black Lichao Liu Hye Ryeong Bae Marco Perez Euan A. Ashley Karim Sallam Joseph C. Wu |
| author_sort | James W.S. Jahng |
| collection | DOAJ |
| description | Arrhythmogenic 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 carrying 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. |
| first_indexed | 2024-12-16T12:57:27Z |
| format | Article |
| id | doaj.art-702a30b9a42f4ef7ab9f9ca919b6d417 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-16T12:57:27Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-702a30b9a42f4ef7ab9f9ca919b6d4172022-12-21T22:30:59ZengElsevierStem Cell Research1873-50612021-05-0153102284Generation 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 geneJames W.S. Jahng0Katelyn E. Black1Lichao Liu2Hye Ryeong Bae3Marco Perez4Euan A. Ashley5Karim Sallam6Joseph C. Wu7Stanford Cardiovascular Institute, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Division of Cardiovascular Medicine, Depart of Medicine, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Department of Genetics, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Division of Cardiovascular Medicine, Depart of Medicine, Stanford University, School of Medicine, United StatesStanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Division of Cardiovascular Medicine, Depart of Medicine, Stanford University, School of Medicine, United States; Department of Radiology, Stanford University, School of Medicine, United States; Corresponding author at: 265 Campus Drive, G1120B, Stanford, CA 94305, United States.Arrhythmogenic 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 carrying 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.http://www.sciencedirect.com/science/article/pii/S1873506121001306 |
| spellingShingle | James W.S. Jahng Katelyn E. Black Lichao Liu Hye Ryeong Bae Marco Perez Euan A. Ashley Karim Sallam Joseph C. Wu 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 Stem Cell Research |
| 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121001306 |
| work_keys_str_mv | AT jameswsjahng generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT katelyneblack generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT lichaoliu generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT hyeryeongbae generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT marcoperez generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT euanaashley generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT karimsallam generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene AT josephcwu generationofthreeinducedpluripotentstemcelllinesscvii003ascvii004ascvii005afrompatientswitharvdccausedbyheterozygousmutationsinthepkp2gene |