التفاصيل البيبلوغرافية
| 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 |
| 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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