Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene

Lourdes Lopez-Onieva; Mar Lamolda; Rosa Montes; Maria Luisa Lozano; Vicente Vicente; José Rivera; Verónica Ramos-Mejía; Pedro J Real

doi:10.1016/j.scr.2017.02.001

Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene

Stem Cell Res. 2017 Apr:20:10-13. doi: 10.1016/j.scr.2017.02.001. Epub 2017 Feb 11.

Authors

Lourdes Lopez-Onieva¹, Mar Lamolda², Rosa Montes², Maria Luisa Lozano³, Vicente Vicente³, José Rivera³, Verónica Ramos-Mejía², Pedro J Real⁴

Affiliations

¹ Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucía, PTS, Granada 18016, Spain. Electronic address: lourdes.lopez@genyo.es.
² Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucía, PTS, Granada 18016, Spain.
³ Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, Spain.
⁴ Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucía, PTS, Granada 18016, Spain. Electronic address: pedro.real@genyo.es.

PMID: 28395735
DOI: 10.1016/j.scr.2017.02.001

Abstract

Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS patient with a p.Phe55Ser mutation in the GPIX gene. Characterization of BSS3-PBMC-iPS4F8 showed that these cells maintained the original mutation present in the BSS patient, expressed pluripotent stem cell markers and were able to differentiate into the three germline layers. This new iPSC line will contribute to better understand the biology of BSS disease.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Bernard-Soulier Syndrome / genetics
Bernard-Soulier Syndrome / metabolism
Bernard-Soulier Syndrome / pathology*
Cell Differentiation
Cell Line
Cellular Reprogramming
DNA Mutational Analysis
Embryoid Bodies / metabolism
Embryoid Bodies / pathology
Female
Homozygote
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Leukocytes, Mononuclear / cytology
Leukocytes, Mononuclear / metabolism
Platelet Glycoprotein GPIb-IX Complex / genetics*
Polymorphism, Single Nucleotide
Tandem Repeat Sequences / genetics
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

Platelet Glycoprotein GPIb-IX Complex
Transcription Factors
adhesion receptor