Article
Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B.
Stem cell research - 1 Dec 2017
Hansen Marten, Varga Eszter, Wüst Tatjana, Mellink Clemens, van der Kevie-Kersemaekers Anne-Marie, Marneth Anne E, von Lindern Marieke, van der Reijden Bert, van den Akker Emile
Abstract excerpt
Peripheral blood mononuclear cells were isolated from an individual harboring a heterozygous c.859C→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...
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