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Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13

2022Artigo científico Acesso aberto
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dc.contributor.authorMaranga, Carina
dc.contributor.authorPereira, Carolina
dc.contributor.authorRaposo, Ana Cláudia
dc.contributor.authorVieira, Adriana A.
dc.contributor.authorDuarte, Sofia
dc.contributor.authorBekman, Evguenia
dc.contributor.authorMilagre, Inês
dc.contributor.authorda Rocha, Simão T.
dc.date.accessioned2022-04-06T15:37:47Z
dc.date.available2022-04-06T15:37:47Z
dc.date.issued2022
dc.description© 2022 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.abstractAngelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characterized a new induced pluripotent stem cell (iPSC) line from a female child with Angelman syndrome harbouring a class II deletion. iPSCs were reprogrammed from fibroblasts using Sendai viruses. The new iPSCs express pluripotency markers, are capable of trilineage in vitro differentiation and have the expected imprinting status of Angelman syndrome. These iPSCs are a valuable tool to elucidate the pathophysiological mechanisms associated with this disease.pt_PT
dc.description.sponsorshipThis work is funded by national funds from FCT - Fundação para a Ciência e a Tecnologia, I.P., in the scope of the projects UIDB/04565/2020 and UIDP/04565/2020 of Institute for Bioengineering and Biosciences – iBB, the project PTDC/BIA-MOL/29320/2017 of the Instituto de Medicina Molecular João Lobo Antunes and the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy - i4HB, as well by the Pedro Maria José de Mello Costa Duarte grant by Fundação Amélia de Mello. C. Maranga is supported by a PhD fellowship (PD/BD/135505/2018) and S.T. da Rocha is supported by an assistant research contract (CEECIND/01234/2017) from FCT.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationStem Cell Res . 2022 Mar 21;61:102757pt_PT
dc.identifier.doi10.1016/j.scr.2022.102757pt_PT
dc.identifier.eissn1876-7753
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10451/52230
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationLA/P/0140/2020pt_PT
dc.relationInstitute for Bioengineering and Biosciences
dc.relationInstitute for Bioengineering and Biosciences
dc.relationScalable production of mature neuronal subtypes from cerebellar organoids in dynamic 3D conditions to model Angelman Syndrome
dc.relationNot Available
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 and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleInstitute for Bioengineering and Biosciences
oaire.awardTitleInstitute for Bioengineering and Biosciences
oaire.awardTitleScalable production of mature neuronal subtypes from cerebellar organoids in dynamic 3D conditions to model Angelman Syndrome
oaire.awardTitleNot Available
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04565%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04565%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIA-MOL%2F29320%2F2017/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F135505%2F2018/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND 2017/CEECIND%2F01234%2F2017%2FCP1396%2FCT0002/PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume61pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream3599-PPCDT
oaire.fundingStreamOE
oaire.fundingStreamCEEC IND 2017
person.familyNameMaranga
person.familyNameBernardino Raposo
person.familyNameAndrade Vieira
person.familyNameBekman
person.familyNameTeixeira da Rocha
person.givenNameCarina
person.givenNameAna Cláudia
person.givenNameAdriana
person.givenNameEvguenia
person.givenNameSimão José
person.identifier693442
person.identifier.ciencia-id7811-C66B-F64C
person.identifier.ciencia-id5319-3EE3-36F3
person.identifier.ciencia-idCE19-993D-D054
person.identifier.ciencia-id6D1D-1265-F8B6
person.identifier.ciencia-id1310-8F0F-1387
person.identifier.orcid0000-0002-0003-4011
person.identifier.orcid0000-0003-2101-7832
person.identifier.orcid0000-0002-3963-1358
person.identifier.orcid0000-0002-9683-7942
person.identifier.ridO-9840-2017
person.identifier.scopus-author-id6602470751
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
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
project.funder.nameFundação para a Ciência e a Tecnologia
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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