title: 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.affiliation: 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.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Lopez-Onieva
authors.affiliation: 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.
authors.forename: Candela
authors.initials: C
authors.lastname: Machuca
authors.affiliation: 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.
authors.forename: Mar
authors.initials: M
authors.lastname: Lamolda
authors.affiliation: 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.
authors.forename: Rosa
authors.initials: R
authors.lastname: Montes
authors.affiliation: Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, Spain.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lozano
authors.affiliation: Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, Spain.
authors.forename: Vicente
authors.initials: V
authors.lastname: Vicente
authors.affiliation: Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Rivera
authors.affiliation: 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.
authors.forename: Verónica
authors.initials: V
authors.lastname: Ramos-Mejía
authors.affiliation: 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.
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Real
mesh_terms: D000818:Animals; D001483:Base Sequence; D001606:Bernard-Soulier Syndrome / Q000235:genetics / Q000473:pathology*; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D058732:Embryoid Bodies / Q000166:cytology / Q000378:metabolism; D005260:Female; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D007963:Leukocytes, Mononuclear / Q000166:cytology; D051379:Mice; D016513:Mice, SCID; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex; D014157:Transcription Factors; C094990:adhesion receptor