Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation
| Autor: | Valeria Bertini, Morten S. Olesen, Alessio Giacomelli, Cristina Mora, Silvia Beltramone, Giovanna Piovani, V. Cortellini, Lena Refsgaard, Eleonora Marchina, Patrizia Dell'Era, Marialaura Serzanti |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Genotype Cellular differentiation Induced Pluripotent Stem Cells 030204 cardiovascular system & hematology Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Internal medicine Atrial Fibrillation Genetic variation medicine Humans Induced pluripotent stem cell lcsh:QH301-705.5 Mutation PITX2 Cell Differentiation Atrial fibrillation Karyotype Cell Biology General Medicine medicine.disease 030104 developmental biology Endocrinology lcsh:Biology (General) Cancer research Developmental Biology Developmental biology Transcription Factors |
| Zdroj: | Stem Cell Research, Vol 24, Iss C, Pp 8-11 (2017) |
| ISSN: | 1876-7753 1873-5061 |
| Popis: | Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the specific PITX2 gene have been identified in patients with early-onset AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a PITX2 p.M200V mutation, using a commercially available non-integrating expression system. The generated iPSCs expressed pluripotency markers and differentiated toward cells belonging to the three embryonic germ layers. Moreover, the cells showed a normal karyotype and retained the PITX2 p.M200V mutation. |
| Databáze: | OpenAIRE |
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