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...

Descripción completa

Detalles Bibliográficos
Autores: 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
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)
id ES_a821d0ec666df2189d96f080e7fc61cb
oai_identifier_str oai:dadun.unav.edu:10171/67334
network_acronym_str ES
network_name_str España
repository_id_str
spelling 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
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10171/67334
url https://hdl.handle.net/10171/67334
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra
instname:Universidad de Navarra
instname_str Universidad de Navarra
reponame_str Dadun. Depósito Académico Digital de la Universidad de Navarra
collection Dadun. Depósito Académico Digital de la Universidad de Navarra
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869415853694386176
score 15,301603