کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
11010785 1806131 2018 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوتکنولوژی یا زیست‌فناوری
پیش نمایش صفحه اول مقاله
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers
چکیده انگلیسی
Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC lines were comprehensively characterized including expression analyses of pluripotency markers, the potential to differentiate into cells of all three germ layers, and stable karyotypes. These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Stem Cell Research - Volume 33, December 2018, Pages 60-64
نویسندگان
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