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Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy

2021-08Journal article Open Access
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dc.contributor.authorCalado, Sofia
dc.contributor.authorBento, Dina
dc.contributor.authorMarques, Nuno
dc.contributor.authorBragança, José
dc.date.accessioned2021-10-14T16:36:19Z
dc.date.available2021-10-14T16:36:19Z
dc.date.issued2021-08
dc.description.abstractLeft Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcriptional regulators, ion channels, sarcomeric and mitochondrial proteins, approximately 60% of LVNC patients do not present these genetic alterations. Here, we describe an induced pluripotent stem cell (hiPSC) line (UALGi002-A) originated from a LVNC female patient (LVNC-hiPSC) who does not present any previously known mutations associated to LVNC. The LVNC-hiPSC exhibited full pluripotency and differentiation potential and retained a normal karyotype after reprogramming. Moreover, the LVNC-hiPSC differentiated into contracting cardiomyocytes. This cellular model will be useful to study the molecular, genetic and functional aspects of LVNC in vitro.pt_PT
dc.description.sponsorshipALG-01-0145-FEDER-28044; PPBI-POCI-01-0145-FEDER-022122
dc.description.versioninfo:eu-repo/semantics/acceptedVersionpt_PT
dc.identifier.doi10.1016/j.scr.2021.102462pt_PT
dc.identifier.eissn1876-7753
dc.identifier.urihttp://hdl.handle.net/10400.1/17226
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationVariant sequences Identification in human genomes and Their Assignment as true causative mutations for LVNC - VITAL
dc.relationIdentification and functional analysis of genetic variants in left ventricular noncompaction cardiomyopathy
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleGeneration and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathypt_PT
dc.title.alternativeGeração e diferenciação cardíaca de uma linha de células-tronco pluripotentes induzidas humanas UALGi002-A de uma paciente do sexo feminino com Cardiomiopatia Não-Ventricular Esquerdapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleVariant sequences Identification in human genomes and Their Assignment as true causative mutations for LVNC - VITAL
oaire.awardTitleIdentification and functional analysis of genetic variants in left ventricular noncompaction cardiomyopathy
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/9471 - RIDTI/PTDC%2FBTM-TEC%2F28044%2F2017/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND 3ed/2020.01532.CEECIND%2FCP1613%2FCT0005/PT
oaire.citation.startPage102462pt_PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume55pt_PT
oaire.fundingStream9471 - RIDTI
oaire.fundingStreamCEEC IND 3ed
person.familyNameCalado
person.familyNameBento
person.familyNameMarques
person.familyNameBragança
person.givenNameSofia
person.givenNameDina
person.givenNameNuno
person.givenNameJosé
person.identifier.ciencia-id7C1A-91BA-B6A0
person.identifier.ciencia-idAC1D-FA9D-F66F
person.identifier.orcid0000-0001-5509-4145
person.identifier.orcid0000-0001-6383-7228
person.identifier.orcid0000-0003-0275-2807
person.identifier.orcid0000-0001-9566-400X
person.identifier.ridK-2202-2016
person.identifier.scopus-author-id56426215600
person.identifier.scopus-author-id6602220001
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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