Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing
| Autor: | Haodi Wu, Robert J. Barndt, Ning Ma, Stephen Y. Chan, Michael P. Haugh, Ying Tang, Laila S. Alamri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Cardiomyopathy
Dilated Mutation endocrine system Cas9 QH301-705.5 Calcium-Binding Proteins Induced Pluripotent Stem Cells Dilated cardiomyopathy Cell Biology General Medicine Germ layer Biology medicine.disease_cause medicine.disease In vitro Cell biology Phospholamban medicine Humans CRISPR CRISPR-Cas Systems Biology (General) Induced pluripotent stem cell Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 56, Iss, Pp 102544-(2021) |
| ISSN: | 1873-5061 |
| Popis: | As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM. Here, we introduced a PLN-R9C mutation in a healthy control induced pluripotent stem cell (iPSC) line using CRISPR/Cas9. The genome-edited iPSC line showed typical pluripotent cell morphology, robust expression of pluripotency markers, normal karyotype, and the capacity to differentiate into all three germ layers in vitro. The PLN-R9C iPSC line provides a valuable resource to dissect the molecular mechanisms underlying PLN mutation-related DCM. |
| Databáze: | OpenAIRE |
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