| Autor: |
Jiajia Yang, Eva Samal, Mariana Burgos Angulo, Alexander Bertalovitz, Thomas V. McDonald |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 54, Iss , Pp 102398- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102398 |
| Popis: |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal genes like Plakophilin-2 (PKP2). Here, we generated an iPSC cell line bearing a pathogenic heterozygous mutation in PKP2 (c.1799delA) from a patient affected by ARVC. Peripheral blood mononuclear cells were reprogrammed by Sendai virus vectors encoding KOS, KLF4, and c-MYC. Derived iPSCs expressed pluripotent markers, showed intact karyotype and demonstrated the ability to differentiate into three germ layers. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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