Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.

Abstract

Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies. This iPSC line will provide a powerful tool to study the biology of BSS disease.

• Authors: Lourdes Lopez-Onieva, Candela Machuca, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
• Journal: Stem cell research (Stem Cell Res) Vol. 17 Issue 3 Pg. 603-606 (11 2016) ISSN: 1876-7753 [Electronic] England
• PMID: 27934591 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany. Published by Elsevier B.V. All rights reserved.

Chemical References

• Platelet Glycoprotein GPIb-IX Complex
• Transcription Factors
• adhesion receptor

Topics

• Animals
• Base Sequence
• Bernard-Soulier Syndrome (genetics, pathology)
• Cell Differentiation
• Cell Line
• Cellular Reprogramming
• DNA Mutational Analysis
• Embryoid Bodies (cytology, metabolism)
• Female
• Humans
• Induced Pluripotent Stem Cells (cytology, metabolism, transplantation)
• Karyotype
• Leukocytes, Mononuclear (cytology)
• Mice
• Mice, SCID
• Platelet Glycoprotein GPIb-IX Complex (genetics)
• Polymorphism, Single Nucleotide
• Teratoma (pathology)
• Transcription Factors (genetics, metabolism)