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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene

التفاصيل البيبلوغرافية
العنوان: Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene
المؤلفون: Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano Gnecchi
المصدر: Stem Cell Research, Vol 36, Iss , Pp - (2019)
بيانات النشر: Elsevier, 2019.
سنة النشر: 2019
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic Long QT Syndrome (LQTS) type 1 patient, belonging to a South African (SA) founder population segregating the heterozygous mutation c.1022C > T p.A341V on the KCNQ1 gene. The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506119300467; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2019.101416
URL الوصول: https://doaj.org/article/09dac8d250964b3b8133b16f5e020155
رقم الأكسشن: edsdoj.09dac8d250964b3b8133b16f5e020155
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
DOI:10.1016/j.scr.2019.101416