Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121002488 |
| _version_ | 1829533107185778688 |
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| author | Gema Mondéjar-Parreño James W.S. Jahng Nadjet Belbachir Blake C. Wu Xiaolan Zhang Marco V. Perez Nitish Badhwar Joseph C. Wu |
| author_facet | Gema Mondéjar-Parreño James W.S. Jahng Nadjet Belbachir Blake C. Wu Xiaolan Zhang Marco V. Perez Nitish Badhwar Joseph C. Wu |
| author_sort | Gema Mondéjar-Parreño |
| collection | DOAJ |
| description | Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two LQT2 patients carrying pathogenic variants (c.1714G > A and c.2960del) and one LQT2 patient carrying a variant of uncertain significance (c.1870A > T) in KCNH2. All lines show typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and differentiate into three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of LQTS caused by caused by KCNH2 mutations. |
| first_indexed | 2024-12-16T18:51:16Z |
| format | Article |
| id | doaj.art-d87f8252619345a6b2908e70912149e9 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-16T18:51:16Z |
| publishDate | 2021-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-d87f8252619345a6b2908e70912149e92022-12-21T22:20:42ZengElsevierStem Cell Research1873-50612021-07-0154102402Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndromeGema Mondéjar-Parreño0James W.S. Jahng1Nadjet Belbachir2Blake C. Wu3Xiaolan Zhang4Marco V. Perez5Nitish Badhwar6Joseph C. Wu7Stanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular Medicine, United StatesStanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular Medicine, United StatesStanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular Medicine, United StatesStanford Cardiovascular Institute, United StatesStanford Cardiovascular Institute, United StatesStanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular Medicine, United StatesStanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular Medicine, United StatesStanford Cardiovascular Institute, United States; Depart of Medicine, Division of Cardiovascular 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.Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two LQT2 patients carrying pathogenic variants (c.1714G > A and c.2960del) and one LQT2 patient carrying a variant of uncertain significance (c.1870A > T) in KCNH2. All lines show typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and differentiate into three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of LQTS caused by caused by KCNH2 mutations.http://www.sciencedirect.com/science/article/pii/S1873506121002488 |
| spellingShingle | Gema Mondéjar-Parreño James W.S. Jahng Nadjet Belbachir Blake C. Wu Xiaolan Zhang Marco V. Perez Nitish Badhwar Joseph C. Wu Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome Stem Cell Research |
| title | Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome |
| title_full | Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome |
| title_fullStr | Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome |
| title_full_unstemmed | Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome |
| title_short | Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome |
| title_sort | generation of three heterozygous kcnh2 mutation carrying human induced pluripotent stem cell lines for modeling lqt2 syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121002488 |
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