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Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene

2024-12Journal article Open access
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dc.contributor.authorFerreira, Anita
dc.contributor.authorCalado, Sofia
dc.contributor.authorJorge, Xavier
dc.contributor.authorLange, Job de
dc.contributor.authorCarvalhal, Sara
dc.date.accessioned2024-11-26T14:49:53Z
dc.date.available2024-11-26T14:49:53Z
dc.date.issued2024-12
dc.description.abstractMutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly. The patient carried two variants in the BUBfibroblast gene (OMIM # 602452), one (c.[2197dupG]; p.[D732fs*11]) paternally inherited and one (c.[2625+1G>A]; p.[V822_L875del] maternally inherited. The generated clones exhibit a normal karyotype (UALGi003-A) and trisomy 8 (UALGi003-B), express pluripotency markers, and differentiate into trilineage cells in vitro. These cell lines can be used to study neurodevelopment and the processes of chromosome segregation.eng
dc.description.sponsorshipCEECIND/03721/2018/CP1540/CT0003; 2022.0 1028.PTDC
dc.identifier.doi10.1016/j.scr.2024.103594
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10400.1/26348
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relationIdentification and functional analysis of genetic variants in left ventricular noncompaction cardiomyopathy
dc.relation.ispartofStem Cell Research
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectNeurodevelopmental disorders
dc.subjectiPSC
dc.subjectAutosomal recessive primary microcephaly (MCPH)
dc.subject(MCPH)Autosomal recessive primary microcephaly 30 (MCPH 30)
dc.subjectCohesinopathy
dc.subjectMosaic variegated aneuploidy (MVA)
dc.subjectSyndrome
dc.subjectBUB1
dc.titleGeneration and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 geneeng
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleIdentification and functional analysis of genetic variants in left ventricular noncompaction cardiomyopathy
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND 3ed/2020.01532.CEECIND%2FCP1613%2FCT0005/PT
oaire.citation.startPage103594
oaire.citation.titleStem Cell Research
oaire.citation.volume81
oaire.fundingStreamCEEC IND 3ed
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameFerreira
person.familyNameCalado
person.familyNameJorge
person.familyNameCarvalhal
person.givenNameAnita
person.givenNameSofia
person.givenNameXavier
person.givenNameSara
person.identifier.ciencia-id7C1A-91BA-B6A0
person.identifier.ciencia-idC511-8A34-30BE
person.identifier.orcid0009-0002-2285-988X
person.identifier.orcid0000-0001-5509-4145
person.identifier.orcid0000-0002-1756-6735
person.identifier.orcid0000-0002-6004-3286
person.identifier.ridK-2202-2016
person.identifier.scopus-author-id56426215600
person.identifier.scopus-author-id56888576000
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isAuthorOfPublicatione4bf7c1d-7ed5-4efc-8589-f21aef74728a
relation.isAuthorOfPublication950f7df3-f549-497f-9ace-8edd58a83e08
relation.isAuthorOfPublicationdb48c68a-54ad-4456-a01f-adba94ffdadf
relation.isAuthorOfPublication5b4befe5-cdb3-408a-839e-8c5adc64a162
relation.isAuthorOfPublication.latestForDiscoverye4bf7c1d-7ed5-4efc-8589-f21aef74728a
relation.isProjectOfPublication092bf0f6-ccd0-4b1a-b548-877e3498d418
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