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

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

doi:10.1016/j.scr.2017.10.008

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

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

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	34-37
Number of pages	4
Journal	Stem Cell Research
Volume	25
DOIs	https://doi.org/10.1016/j.scr.2017.10.008
Publication status	Published - Dec 2017
Externally published	Yes

Keywords

Blood Platelets/metabolism
Cell Differentiation/genetics
Cellular Reprogramming/genetics
Heterozygote
Humans
Induced Pluripotent Stem Cells/cytology
Karyotype
Leukocytes, Mononuclear/cytology
Mutation

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Hansen, M., Varga, E., Wüst, T., Mellink, C., van der Kevie-Kersemaekers, A.-M., Marneth, A. E., von Lindern, M., van der Reijden, B., & van den Akker, E. (2017). Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B. Stem Cell Research, 25, 34-37. https://doi.org/10.1016/j.scr.2017.10.008

@article{6f0571f750874d168cff032b41bce537,

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

abstract = "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.",

keywords = "Blood Platelets/metabolism, Cell Differentiation/genetics, Cellular Reprogramming/genetics, Heterozygote, Humans, Induced Pluripotent Stem Cells/cytology, Karyotype, Leukocytes, Mononuclear/cytology, Mutation",

author = "Marten Hansen and Eszter Varga and Tatjana W{\"u}st and Clemens Mellink and {van der Kevie-Kersemaekers}, Anne-Marie and Marneth, {Anne E} and {von Lindern}, Marieke and {van der Reijden}, Bert and {van den Akker}, Emile",

note = "Publisher Copyright: {\textcopyright} 2017",

year = "2017",

month = dec,

doi = "10.1016/j.scr.2017.10.008",

language = "English",

volume = "25",

pages = "34--37",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

Hansen, M, Varga, E, Wüst, T, Mellink, C, van der Kevie-Kersemaekers, A-M, Marneth, AE, von Lindern, M, van der Reijden, B & van den Akker, E 2017, 'Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B', Stem Cell Research, vol. 25, pp. 34-37. https://doi.org/10.1016/j.scr.2017.10.008

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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 - 2017/12

Y1 - 2017/12

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 causing mutation was shown by Sanger sequencing. The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B.

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 causing mutation was shown by Sanger sequencing. The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B.

KW - Blood Platelets/metabolism

KW - Cell Differentiation/genetics

KW - Cellular Reprogramming/genetics

KW - Heterozygote

KW - Humans

KW - Induced Pluripotent Stem Cells/cytology

KW - Karyotype

KW - Leukocytes, Mononuclear/cytology

KW - Mutation

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DO - 10.1016/j.scr.2017.10.008

M3 - Article

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SN - 1873-5061

VL - 25

SP - 34

EP - 37

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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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Keywords

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