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Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene

التفاصيل البيبلوغرافية
العنوان: Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene
المؤلفون: Bastien Cimarosti, Robin Canac, Stephan De Waard, Aurore Girardeau, Anne Gaignerie, Aude Derevier, Virginie Forest, Michel Ronjat, Hervé Le Marec, Jean-Baptiste Gourraud, Patricia Lemarchand, Michel De Waard, Guillaume Lamirault, Nathalie Gaborit
المصدر: Stem Cell Research, Vol 60, Iss , Pp 102688- (2022)
بيانات النشر: Elsevier, 2022.
سنة النشر: 2022
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an exercise and emotional stress-induced life-threatening inherited heart rhythm disorder, characterized by an abnormal cellular calcium homeostasis. Most reported cases have been linked to mutations in the gene encoding the type 2 ryanodine receptor gene, RYR2. We generated induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMC) from three CPVT-affected patients, two of them carrying p.R4959Q mutation and one carrying p.Y2476D mutation. These generated hiPSC lines are a useful model to study pathophysiological consequences of RYR2 dysfunction in humans and the molecular basis of CPVT.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S187350612200037X; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2022.102688
URL الوصول: https://doaj.org/article/480ef971c3f441c0b9fa5c25d89e4e0e
رقم الأكسشن: edsdoj.480ef971c3f441c0b9fa5c25d89e4e0e
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
DOI:10.1016/j.scr.2022.102688