Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene
We generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing t...
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| Format: | Article |
| Language: | English |
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Elsevier
2016-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506116300253 |
| _version_ | 1811201046292201472 |
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| author | Lourdes Lopez-Onieva Rosa Montes Mar Lamolda Tamara Romero Verónica Ayllon Maria Luisa Lozano Vicente Vicente José Rivera Verónica Ramos-Mejía Pedro J. Real |
| author_facet | Lourdes Lopez-Onieva Rosa Montes Mar Lamolda Tamara Romero Verónica Ayllon Maria Luisa Lozano Vicente Vicente José Rivera Verónica Ramos-Mejía Pedro J. Real |
| author_sort | Lourdes Lopez-Onieva |
| collection | DOAJ |
| description | We generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies. BSS1-PBMC-iPS4F4 will provide a powerful tool to study BSS. |
| first_indexed | 2024-04-12T02:15:15Z |
| format | Article |
| id | doaj.art-118f83f375184a77befb558986571fa2 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 1876-7753 |
| language | English |
| last_indexed | 2024-04-12T02:15:15Z |
| publishDate | 2016-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-118f83f375184a77befb558986571fa22022-12-22T03:52:17ZengElsevierStem Cell Research1873-50611876-77532016-05-0116369269510.1016/j.scr.2016.04.013Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX geneLourdes Lopez-Onieva0Rosa Montes1Mar Lamolda2Tamara Romero3Verónica Ayllon4Maria Luisa Lozano5Vicente Vicente6José Rivera7Verónica Ramos-Mejía8Pedro J. Real9Gene 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, SpainGene 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, SpainGene 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, SpainGene 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, SpainGene 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, SpainServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, SpainServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, SpainServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia 30003, SpainGene 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, SpainGene 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, SpainWe generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies. BSS1-PBMC-iPS4F4 will provide a powerful tool to study BSS.http://www.sciencedirect.com/science/article/pii/S1873506116300253 |
| spellingShingle | Lourdes Lopez-Onieva Rosa Montes Mar Lamolda Tamara Romero Verónica Ayllon Maria Luisa Lozano Vicente Vicente José Rivera Verónica Ramos-Mejía Pedro J. Real Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene Stem Cell Research |
| title | Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene |
| title_full | Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene |
| title_fullStr | Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene |
| title_full_unstemmed | Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene |
| title_short | Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene |
| title_sort | generation of induced pluripotent stem cells ipscs from a bernard soulier syndrome patient carrying a w71r mutation in the gpix gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506116300253 |
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