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Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation

التفاصيل البيبلوغرافية
العنوان: Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation
المؤلفون: Wang Xiaojing, Ma Yanyan, Duan Ruonan, Liu Xiaolin, Zhang Haiyan, Ma Jian, Liu Yi, Sun Wenjie, Liu Qiji
المصدر: Stem Cell Research, Vol 43, Iss , Pp - (2020)
بيانات النشر: Elsevier, 2020.
سنة النشر: 2020
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-integrative vectors. The generated iPSC line (SDUBMSi001-A) had a normal karyotype, expressed pluripotency markers and could be differentiated into three germ layers in vitro.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506120300313; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2020.101727
URL الوصول: https://doaj.org/article/89367d4e6a454040a4f2bc542effba2d
رقم الأكسشن: edsdoj.89367d4e6a454040a4f2bc542effba2d
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
DOI:10.1016/j.scr.2020.101727