Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene
Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A...
| Autores: | , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universidad de Navarra |
| Repositorio: | Dadun. Depósito Académico Digital de la Universidad de Navarra |
| Idioma: | inglés |
| OAI Identifier: | oai:dadun.unav.edu:10171/67334 |
| Acceso en línea: | https://hdl.handle.net/10171/67334 |
| Access Level: | acceso abierto |
| Palabra clave: | Transthyretin Amyloid cardiomyopathy Liver cells Pluripotent stem cell (iPSC) |
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Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR geneMontero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5Flandes-Iparraguirre, M. (María)|||/items/a6e2b5bc-d2e2-4e55-a013-a472f9083dc1Kuebler, B. (Brend)|||/items/093707f5-3c5b-48fa-b198-1896cd6206abArán, B. (Begoña)|||/items/cef67dd1-6904-42bb-b065-621b03516c2bLarequi-García, E. (Eduardo)|||/items/c82f1e42-2768-4025-bddc-ad659209577cAnaut, I. (Ilazki)|||/items/71e222fc-9392-4de1-889c-1fc0aa89b57cCoppiello, G. (Giulia)|||/items/d1d63554-537e-458e-8f86-02ae9264fe14Veiga, A. (Anna)|||/items/f0b660bd-aaff-4fc0-9688-dc5e128d2ee9Basurte-Elorz, M.T. (María Teresa)|||/items/ea05810c-ca40-4d1a-a81f-ccec06313130García-de-Yébenes-Castro, M. (Manuel)|||/items/1d967062-cbca-4f77-b0f0-fabea77e39dbGavira-Gómez, J.J. (Juan José)|||/items/a253ead5-4ef7-4b80-9aab-43b47605270eProsper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1Iglesias-García, O. (Olalla)|||/items/93424e57-6115-4ea0-bcea-436fa10ec58dMazo-Vega, M.M. (Manuel María)|||/items/c871e8d9-ee5d-487b-97ef-7302feb8a02eAranguren-López, X. (Xabier)|||/items/217519c3-f392-48cb-b4c9-87d4e2fd0570TransthyretinAmyloid cardiomyopathyLiver cellsPluripotent stem cell (iPSC)Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) from a patient suffering familial transthyretin amyloid cardiomyopathy carrying a c.128G>A (p.Ser43Asn) mutation in the TTR gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for therapeutic discovery.ElsevierDadun. Depósito Académico Digital Universidad de Navarra20232023-09-2720232023-01-0120232023-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/67334reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/673342026-06-21T12:47:57Z |
| dc.title.none.fl_str_mv |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| title |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| spellingShingle |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene Montero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5 Transthyretin Amyloid cardiomyopathy Liver cells Pluripotent stem cell (iPSC) |
| title_short |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| title_full |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| title_fullStr |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| title_full_unstemmed |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| title_sort |
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene |
| dc.creator.none.fl_str_mv |
Montero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5 Flandes-Iparraguirre, M. (María)|||/items/a6e2b5bc-d2e2-4e55-a013-a472f9083dc1 Kuebler, B. (Brend)|||/items/093707f5-3c5b-48fa-b198-1896cd6206ab Arán, B. (Begoña)|||/items/cef67dd1-6904-42bb-b065-621b03516c2b Larequi-García, E. (Eduardo)|||/items/c82f1e42-2768-4025-bddc-ad659209577c Anaut, I. (Ilazki)|||/items/71e222fc-9392-4de1-889c-1fc0aa89b57c Coppiello, G. (Giulia)|||/items/d1d63554-537e-458e-8f86-02ae9264fe14 Veiga, A. (Anna)|||/items/f0b660bd-aaff-4fc0-9688-dc5e128d2ee9 Basurte-Elorz, M.T. (María Teresa)|||/items/ea05810c-ca40-4d1a-a81f-ccec06313130 García-de-Yébenes-Castro, M. (Manuel)|||/items/1d967062-cbca-4f77-b0f0-fabea77e39db Gavira-Gómez, J.J. (Juan José)|||/items/a253ead5-4ef7-4b80-9aab-43b47605270e Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Iglesias-García, O. (Olalla)|||/items/93424e57-6115-4ea0-bcea-436fa10ec58d Mazo-Vega, M.M. (Manuel María)|||/items/c871e8d9-ee5d-487b-97ef-7302feb8a02e Aranguren-López, X. (Xabier)|||/items/217519c3-f392-48cb-b4c9-87d4e2fd0570 |
| author |
Montero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5 |
| author_facet |
Montero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5 Flandes-Iparraguirre, M. (María)|||/items/a6e2b5bc-d2e2-4e55-a013-a472f9083dc1 Kuebler, B. (Brend)|||/items/093707f5-3c5b-48fa-b198-1896cd6206ab Arán, B. (Begoña)|||/items/cef67dd1-6904-42bb-b065-621b03516c2b Larequi-García, E. (Eduardo)|||/items/c82f1e42-2768-4025-bddc-ad659209577c Anaut, I. (Ilazki)|||/items/71e222fc-9392-4de1-889c-1fc0aa89b57c Coppiello, G. (Giulia)|||/items/d1d63554-537e-458e-8f86-02ae9264fe14 Veiga, A. (Anna)|||/items/f0b660bd-aaff-4fc0-9688-dc5e128d2ee9 Basurte-Elorz, M.T. (María Teresa)|||/items/ea05810c-ca40-4d1a-a81f-ccec06313130 García-de-Yébenes-Castro, M. (Manuel)|||/items/1d967062-cbca-4f77-b0f0-fabea77e39db Gavira-Gómez, J.J. (Juan José)|||/items/a253ead5-4ef7-4b80-9aab-43b47605270e Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Iglesias-García, O. (Olalla)|||/items/93424e57-6115-4ea0-bcea-436fa10ec58d Mazo-Vega, M.M. (Manuel María)|||/items/c871e8d9-ee5d-487b-97ef-7302feb8a02e Aranguren-López, X. (Xabier)|||/items/217519c3-f392-48cb-b4c9-87d4e2fd0570 |
| author_role |
author |
| author2 |
Flandes-Iparraguirre, M. (María)|||/items/a6e2b5bc-d2e2-4e55-a013-a472f9083dc1 Kuebler, B. (Brend)|||/items/093707f5-3c5b-48fa-b198-1896cd6206ab Arán, B. (Begoña)|||/items/cef67dd1-6904-42bb-b065-621b03516c2b Larequi-García, E. (Eduardo)|||/items/c82f1e42-2768-4025-bddc-ad659209577c Anaut, I. (Ilazki)|||/items/71e222fc-9392-4de1-889c-1fc0aa89b57c Coppiello, G. (Giulia)|||/items/d1d63554-537e-458e-8f86-02ae9264fe14 Veiga, A. (Anna)|||/items/f0b660bd-aaff-4fc0-9688-dc5e128d2ee9 Basurte-Elorz, M.T. (María Teresa)|||/items/ea05810c-ca40-4d1a-a81f-ccec06313130 García-de-Yébenes-Castro, M. (Manuel)|||/items/1d967062-cbca-4f77-b0f0-fabea77e39db Gavira-Gómez, J.J. (Juan José)|||/items/a253ead5-4ef7-4b80-9aab-43b47605270e Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Iglesias-García, O. (Olalla)|||/items/93424e57-6115-4ea0-bcea-436fa10ec58d Mazo-Vega, M.M. (Manuel María)|||/items/c871e8d9-ee5d-487b-97ef-7302feb8a02e Aranguren-López, X. (Xabier)|||/items/217519c3-f392-48cb-b4c9-87d4e2fd0570 |
| author2_role |
author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Dadun. Depósito Académico Digital Universidad de Navarra |
| dc.subject.none.fl_str_mv |
Transthyretin Amyloid cardiomyopathy Liver cells Pluripotent stem cell (iPSC) |
| topic |
Transthyretin Amyloid cardiomyopathy Liver cells Pluripotent stem cell (iPSC) |
| description |
Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) from a patient suffering familial transthyretin amyloid cardiomyopathy carrying a c.128G>A (p.Ser43Asn) mutation in the TTR gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for therapeutic discovery. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023 2023-09-27 2023 2023-01-01 2023 2023-01-01 |
| dc.type.none.fl_str_mv |
journal article http://purl.org/coar/resource_type/c_6501 |
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info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/10171/67334 |
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https://hdl.handle.net/10171/67334 |
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Inglés eng |
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Inglés |
| language |
eng |
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open access http://purl.org/coar/access_right/c_abf2 |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 |
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openAccess |
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application/pdf |
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Elsevier |
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Elsevier |
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reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra instname:Universidad de Navarra |
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Universidad de Navarra |
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Dadun. Depósito Académico Digital de la Universidad de Navarra |
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Dadun. Depósito Académico Digital de la Universidad de Navarra |
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