Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50
| Autor: | Chiara Cantaloni, Viviana Meraviglia, Giada Cattelan, Giulio Pompilio, Marina Di Segni, Michela Casella, Alessandra Rossini, Benedetta Ermon, Peter P. Pramstaller, Claudia B. Volpato, Elena Sommariva, Rosamaria Silipigni |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Heterozygote Induced Pluripotent Stem Cells Cardiomyopathy 030204 cardiovascular system & hematology Biology medicine.disease_cause Article Frameshift mutation 03 medical and health sciences 0302 clinical medicine medicine Humans Induced pluripotent stem cell lcsh:QH301-705.5 Gene Cells Cultured Skin Mutation Arrhythmias Cardiac Cell Differentiation Karyotype Cell Biology General Medicine Fibroblasts medicine.disease 030104 developmental biology lcsh:Biology (General) Cancer research Cardiomyopathies Plakophilins Reprogramming Ipsc line Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 32, Iss, Pp 78-82 (2018) Stem Cell Research |
| ISSN: | 1873-5061 |
| DOI: | 10.1016/j.scr.2018.09.003 |
| Popis: | Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, especially in plakophilin2 (PKP2). Here, using a virus-free reprogramming approach, we generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of one ACM patient carrying the frameshift heterozygous PKP2 mutation c.2569_3018del50. The iPSC line (EURACi004-A) showed the typical morphology of pluripotent cells, possessed normal karyotype and exhibited pluripotency markers and trilineage differentiation potential, including cardiomyogenic capability. Thus, this line can represent a human in vitro model to study the molecular basis of ACM. |
| Databáze: | OpenAIRE |
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