Logo do repositório
 
Publicação

Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation

2024Artigo científico Acesso aberto
Ver registo simples
dc.contributor.authorRibeiro, Marta
dc.contributor.authorMartins, Sandra
dc.contributor.authorCarvalho, Teresa
dc.contributor.authorFurtado, Marta
dc.contributor.authorCabral, Joaquim M.S.
dc.contributor.authorBrito, Dulce
dc.contributor.authorCarmo-Fonseca, Maria
dc.contributor.authorda Rocha, Simão T.
dc.date.accessioned2024-01-09T12:43:01Z
dc.date.available2024-01-09T12:43:01Z
dc.date.issued2024
dc.description© 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).pt_PT
dc.description.abstractFamilial hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition. HCM patients show left ventricle hypertrophy without any associated loading conditions, being at risk for heart failure and sudden cardiac death. Two induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells obtained from two unrelated individuals, a 54-year-old male (F81) and a 44-year-old female (F93), both carrying the MYBPC3 c.1484G>A HCM mutation. iPSCs show expression of pluripotency markers, trilineage differentiation capacity and a normal karyotype. This resource enables further assessment of the pathophysiological development of HCM.pt_PT
dc.description.sponsorshipThis work was supported by "la Caixa" Foundation under the agreement LCF/PR/HR20/52400021. Simão Teixeira da Rocha is supported by an assistant research contract 2021.00660.CEECIND from Fundação para Ciência e Tecnologia/Ministério da Ciência, Tecnologia e Ensino Superior (FCT/MCTES).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationStem Cell Res. 2023 Dec 13:74:103282pt_PT
dc.identifier.doi10.1016/j.scr.2023.103282pt_PT
dc.identifier.eissn1876-7753
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10451/61653
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationRescuing defective X-chromosome inactivation in induced pluripotent stem cells for translational and clinical research
dc.relation.publisherversionhttps://www.sciencedirect.com/journal/stem-cell-researchpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.titleGeneration of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumber2021.00660.CEECIND/CP1651/CT0018
oaire.awardTitleRescuing defective X-chromosome inactivation in induced pluripotent stem cells for translational and clinical research
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND4ed/2021.00660.CEECIND%2FCP1651%2FCT0018/PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume74pt_PT
oaire.fundingStreamCEEC IND4ed
person.familyNameRibeiro
person.familyNameBento Penisga Martins
person.familyNameTenório Figueiredo Carvalho Gonçalves
person.familyNameFurtado
person.familyNameCabral
person.familyNameBrito
person.familyNameCarmo-Fonseca
person.familyNameTeixeira da Rocha
person.givenNameMarta
person.givenNameSandra Cristina
person.givenNameMaria Teresa
person.givenNameMarta
person.givenNameJoaquim M.S.
person.givenNameDulce
person.givenNameMaria
person.givenNameSimão José
person.identifier.ciencia-idFD1A-2C90-DEB2
person.identifier.ciencia-id061D-15C7-084D
person.identifier.ciencia-idEC1A-86D9-0436
person.identifier.ciencia-idC210-5893-D909
person.identifier.ciencia-idAB13-9ED3-C821
person.identifier.ciencia-idF216-586F-1762
person.identifier.ciencia-idB31F-0435-0753
person.identifier.ciencia-id1310-8F0F-1387
person.identifier.orcid0000-0001-7172-6173
person.identifier.orcid0000-0002-7733-4485
person.identifier.orcid0000-0001-7061-8904
person.identifier.orcid0000-0003-3714-9653
person.identifier.orcid0000-0002-2405-5845
person.identifier.orcid0000-0003-1278-1847
person.identifier.orcid0000-0002-3402-7143
person.identifier.orcid0000-0002-9683-7942
person.identifier.ridG-2052-2010
person.identifier.ridG-9650-2016
person.identifier.scopus-author-id7201350203
person.identifier.scopus-author-id7004510538
person.identifier.scopus-author-id7007128195
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication6e188d1d-fe08-4225-9016-4e85794b29b0
relation.isAuthorOfPublication4b01d862-884e-4e42-ac19-563747702ad4
relation.isAuthorOfPublication62fd70ce-9f95-4217-bf5a-73a843639aba
relation.isAuthorOfPublicationd3a096e7-7f07-4527-90a9-ff6a0781f605
relation.isAuthorOfPublicationf2ef3ad9-29ce-4c93-9adf-fe05ac8fbfa1
relation.isAuthorOfPublication196a2934-1434-433c-9735-81acb6fbe587
relation.isAuthorOfPublicationf4cae50c-2389-4b6a-8e3a-8fd8e538add0
relation.isAuthorOfPublication52b38b81-1fbe-42e0-9c6b-a334400ae3d6
relation.isAuthorOfPublication.latestForDiscovery6e188d1d-fe08-4225-9016-4e85794b29b0
relation.isProjectOfPublicationbc84c91f-592f-4c3b-a5d2-a91c26c5335c
relation.isProjectOfPublication.latestForDiscoverybc84c91f-592f-4c3b-a5d2-a91c26c5335c

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
Generation_induced.pdf
Tamanho:
2.37 MB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
1.2 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

FM-CCUL-Artigos em Revistas Internacionais
IMM - Artigos em Revistas Internacionais