کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5522589 | 1546028 | 2017 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوتکنولوژی یا زیستفناوری
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B](/preview/png/5522589.png)
چکیده انگلیسی
Peripheral blood mononuclear cells were isolated from an individual harboring a heterozygous c.859C â T p.Q287* mutation in GFI1B, causing an autosomal dominant bleeding disorder, platelet type, 17 (BDPLT17). PBMCs were differentiated to erythroblasts and reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. Pluripotency of iPSC line was confirmed by expression of associated markers and by in vitro spontaneous differentiation towards the 3 germ layers. Normal karyotype confirmed the genomic integrity of iPSCs and the presence of disease causing mutation was shown by Sanger sequencing. The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Stem Cell Research - Volume 25, December 2017, Pages 34-37
Journal: Stem Cell Research - Volume 25, December 2017, Pages 34-37
نویسندگان
Marten Hansen, Eszter Varga, Tatjana Wüst, Clemens Mellink, Anne-Marie van der Kevie-Kersemaekers, Anne E. Marneth, Marieke von Lindern, Bert van der Reijden, Emile van den Akker,