Inborn errors of metabolism: Lessons from iPSC models

The possibility of reprogramming human somatic cells to pluripotency has opened unprecedented opportunities for creating genuinely human experimental models of disease. Inborn errors of metabolism (IEMs) constitute a greatly heterogeneous class of diseases that appear, in principle, especially suite...

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Detalhes bibliográficos
Autores: Escribá, Rubén, Ferrer Lorente, Raquel, Raya Chamorro, Ángel
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2021
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositório:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/179742
Acesso em linha:https://hdl.handle.net/2445/179742
Access Level:Acceso aberto
Palavra-chave:Cèl·lules mare
Metabolisme
Bioenginyeria
Stem cells
Metabolism
Bioengineering
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spelling Inborn errors of metabolism: Lessons from iPSC modelsEscribá, RubénFerrer Lorente, RaquelRaya Chamorro, ÁngelCèl·lules mareMetabolismeBioenginyeriaStem cellsMetabolismBioengineeringThe possibility of reprogramming human somatic cells to pluripotency has opened unprecedented opportunities for creating genuinely human experimental models of disease. Inborn errors of metabolism (IEMs) constitute a greatly heterogeneous class of diseases that appear, in principle, especially suited to be modeled by iPSC-based technology. Indeed, dozens of IEMs have already been modeled to some extent using patient-specific iPSCs. Here, we review the advantages and disadvantages of iPSC-based disease modeling in the context of IEMs, as well as particular challenges associated to this approach, together with solutions researchers have proposed to tackle them. We have structured this review around six lessons that we have learnt from those previous modeling efforts, and that we believe should be carefully considered by researchers wishing to embark in future iPSC-based models of IEMs.Springer Science and Business Media LLC2021202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion12 p.application/pdfhttps://hdl.handle.net/2445/179742Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1007/s11154-021-09671-zReviews in Endocrine and Metabolic Disorders, 2021https://doi.org/10.1007/s11154-021-09671-zcc by (c) Escribá, Rubén et al., 2021http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1797422026-05-29T05:05:01Z
dc.title.none.fl_str_mv Inborn errors of metabolism: Lessons from iPSC models
title Inborn errors of metabolism: Lessons from iPSC models
spellingShingle Inborn errors of metabolism: Lessons from iPSC models
Escribá, Rubén
Cèl·lules mare
Metabolisme
Bioenginyeria
Stem cells
Metabolism
Bioengineering
title_short Inborn errors of metabolism: Lessons from iPSC models
title_full Inborn errors of metabolism: Lessons from iPSC models
title_fullStr Inborn errors of metabolism: Lessons from iPSC models
title_full_unstemmed Inborn errors of metabolism: Lessons from iPSC models
title_sort Inborn errors of metabolism: Lessons from iPSC models
dc.creator.none.fl_str_mv Escribá, Rubén
Ferrer Lorente, Raquel
Raya Chamorro, Ángel
author Escribá, Rubén
author_facet Escribá, Rubén
Ferrer Lorente, Raquel
Raya Chamorro, Ángel
author_role author
author2 Ferrer Lorente, Raquel
Raya Chamorro, Ángel
author2_role author
author
dc.subject.none.fl_str_mv Cèl·lules mare
Metabolisme
Bioenginyeria
Stem cells
Metabolism
Bioengineering
topic Cèl·lules mare
Metabolisme
Bioenginyeria
Stem cells
Metabolism
Bioengineering
description The possibility of reprogramming human somatic cells to pluripotency has opened unprecedented opportunities for creating genuinely human experimental models of disease. Inborn errors of metabolism (IEMs) constitute a greatly heterogeneous class of diseases that appear, in principle, especially suited to be modeled by iPSC-based technology. Indeed, dozens of IEMs have already been modeled to some extent using patient-specific iPSCs. Here, we review the advantages and disadvantages of iPSC-based disease modeling in the context of IEMs, as well as particular challenges associated to this approach, together with solutions researchers have proposed to tackle them. We have structured this review around six lessons that we have learnt from those previous modeling efforts, and that we believe should be carefully considered by researchers wishing to embark in future iPSC-based models of IEMs.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/179742
url https://hdl.handle.net/2445/179742
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1007/s11154-021-09671-z
Reviews in Endocrine and Metabolic Disorders, 2021
https://doi.org/10.1007/s11154-021-09671-z
dc.rights.none.fl_str_mv cc by (c) Escribá, Rubén et al., 2021
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Escribá, Rubén et al., 2021
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 12 p.
application/pdf
dc.publisher.none.fl_str_mv Springer Science and Business Media LLC
publisher.none.fl_str_mv Springer Science and Business Media LLC
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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