| Autor: |
Asami, Kashiwa, Takeru, Makiyama, Hirohiko, Kohjitani, Thomas L, Maurissen, Taisuke, Ishikawa, Yuta, Yamamoto, Yimin, Wuriyanghai, Jingshan, Gao, Hai, Huang, Tomohiko, Imamura, Takanori, Aizawa, Misato, Nishikawa, Kazuhisa, Chonabayashi, Hiroyuki, Mishima, Seiko, Ohno, Futoshi, Toyoda, Seiichi, Sato, Koh-Ichiro, Yoshiura, Kazuhiro, Takahashi, Yoshinori, Yoshida, Knut, Woltjen, Minoru, Horie, Naomasa, Makita, Takeshi, Kimura |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Heart rhythm. 20(1) |
| ISSN: |
1556-3871 |
| Popis: |
A missense mutation in the α1c subunit of voltage-gated L-type CaWe aimed to investigate the electrophysiological features and pathophysiological mechanisms of CACNA1C-E1115K in patient-specific induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs).We generated iPSCs from a patient carrying heterozygous CACNA1C-E1115K with overlapping phenotypes of long QT syndrome, Brugada syndrome, and mild cardiac dysfunction. Electrophysiological properties were investigated using iPSC-CMs. We used iPSCs from a healthy individual and an isogenic iPSC line corrected using CRISPR-Cas9-mediated gene editing as controls. A mathematical E1115K-CM model was developed using a human ventricular cell model.Patch-clamp analysis revealed that E1115K-iPSC-CMs exhibited reduced peak CaOur iPSC-based analysis in CACNA1C-E1115K with disrupted Ca |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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