Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B


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 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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Hansen M, Varga E, Wüst T, Mellink C, van der Kevie-Kersemaekers AM, Marneth AE, von Lindern M, van der Reijden B, van den Akker E
Journal Stem cell research
Publication Date 2017 Dec;25:34-37
PubMed 29055225
DOI 10.1016/j.scr.2017.10.008

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