Academic Journal
Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative
العنوان: | Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative |
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المؤلفون: | Balducci, Valentina, Scardigli, Francesco, Harakalova, Magdalena, Peter. van Tintelen, J., Doevendans, Pieter A., Costa, Kevin D., Turnbull, Irene C., P. G. Sluijter, Joost, Stillitano, Francesca |
المساهمون: | Onderzoek Precision medicine, Circulatory Health, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Cardiologie zorg, Team Medisch, Regenerative Medicine and Stem Cells, Onderzoek Cardiovasculair Reg. Med., Experimentele Afd. Cardiologie 2 |
سنة النشر: | 2023 |
مصطلحات موضوعية: | Developmental Biology, Cell Biology |
الوصف: | The rare genetic alteration PLN-c.(40_42delAGA), leading to the deletion of arginine 14 (p.R14del) in phospholamban, is associated with dilated and arrhythmogenic cardiomyopathies occurring in early-adulthood. However, some carriers remain asymptomatic with normal lifespans. Here, we report human induced pluripotent stem cell (iPSC) lines generated from peripheral blood mononuclear cells (PBMCs) of five PLN-R14del carriers, who were asymptomatic at the time of blood collection, and one non-carrier family member. Each line exhibited typical iPSC morphology, pluripotency markers, and tri-lineage differentiation. These cell lines provide a valuable model to investigate the mechanisms underlying the onset, progression, and patient-specific resistance to PLN-R14del-induced cardiomyopathy. |
نوع الوثيقة: | article in journal/newspaper |
وصف الملف: | application/pdf |
اللغة: | English |
تدمد: | 1873-5061 |
Relation: | https://dspace.library.uu.nl/handle/1874/450342 |
الاتاحة: | https://dspace.library.uu.nl/handle/1874/450342 |
Rights: | info:eu-repo/semantics/OpenAccess |
رقم الانضمام: | edsbas.798DF963 |
قاعدة البيانات: | BASE |
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