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

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• 作者：Lourdes Lopez-Onieva^a ; ^{lourdes.lopez@genyo.es} ; Candela Machuca^a ; Mar Lamolda^a ; Rosa Montes^a ; Maria Luisa Lozano^b ; Vicente Vicente^b ; José ; Rivera^b ; Veró ; nica Ramos-Mej&iacute ; a^a ; Pedro J. Real^a ; ^{pedro.real@genyo.es}
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：17
• 期：3
• 页码：603-606
• 全文大小：665 K
• 卷排序：17

文摘

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.