TY - JOUR
T1 - Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287*in GFI1B
AU - Hansen, Marten
AU - Varga, Eszter
AU - Wüst, Tatjana
AU - Mellink, Clemens
AU - van der Kevie-Kersemaekers, Anne-Marie
AU - Marneth, Anne E.
AU - von Lindern, Marieke
AU - van der Reijden, Bert
AU - van den Akker, Emile
PY - 2017
Y1 - 2017
N2 - 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 causingmutationwas shown by Sanger sequencing. The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B. (c) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
AB - 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 causingmutationwas shown by Sanger sequencing. The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B. (c) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
U2 - https://doi.org/10.1016/j.scr.2017.10.008
DO - https://doi.org/10.1016/j.scr.2017.10.008
M3 - Article
C2 - 29055225
SN - 1873-5061
VL - 25
SP - 34
EP - 37
JO - Stem Cell Research
JF - Stem Cell Research
ER -