Generation of primordial germ cell-like cells from iPSCs derived from turner syndrome patients

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dc.contributor.authorSouza, Aline Fernanda de
dc.contributor.authorBressan, Fabiana Fernandes
dc.contributor.authorPieri, Naira Caroline Godoy
dc.contributor.authorBotigelli, Ramon Cesar [UNESP]
dc.contributor.authorRevay, Tamas
dc.contributor.authorHaddad, Simone Kashima
dc.contributor.authorCovas, Dimas Tadeu
dc.contributor.authorRamos, Ester Silveira
dc.contributor.authorKing, Willian Allan
dc.contributor.authorMeirelles, Flavio Vieira
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversity of Guelph
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionUniversity of Calgary
dc.date.accessioned2022-04-29T08:36:14Z
dc.date.available2022-04-29T08:36:14Z
dc.date.issued2021-11-01
dc.description.abstractTurner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their connection with ovarian failure in TS is poorly understood. An in vitro model of PGCs from TS would be beneficial for investigating genetic and epigenetic factors that influence germ cell specification. Here we investigated the potential of reprogramming peripheral mononuclear blood cells from TS women (PBMCs-TS) into iPSCs following in vitro differentiation in hPGCLCs. All hiPSCs-TS lines demonstrated pluripotency state and were capable of differentiation into three embryonic layers (ectoderm, endoderm, and mesoderm). The PGCLCs-TS recapitulated the initial germline development period regarding transcripts and protein marks, including the epigenetic profile. Overall, our results highlighted the feasibility of producing in vitro models to help the understanding of the mechanisms associated with germ cell formation in TS.en
dc.description.affiliationDepartment of Veterinary Medicine Faculty of Animal Science and Food Engineering University of São Paulo (USP)
dc.description.affiliationDepartment of Biomedical Sciences Ontario Veterinary College (OVC) University of Guelph
dc.description.affiliationDepartment of Pharmacology Institute of Biosciences (IBB) São Paulo State University (UNESP)
dc.description.affiliationDepartment Alberta Children’s Hospital Research Institute (ACHRI) University of Calgary
dc.description.affiliationCenter for Cell-based Therapy Regional Blood Center of Ribeirão Preto Ribeirão Preto Medical School University of São Paulo
dc.description.affiliationDepartment of Genetics Ribeirão Preto Medical School University of São Paulo
dc.description.affiliationUnespDepartment of Pharmacology Institute of Biosciences (IBB) São Paulo State University (UNESP)
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIdFAPESP: 2015/26818-5
dc.description.sponsorshipIdFAPESP: 2017/12140-2
dc.description.sponsorshipIdFAPESP: 2019/08346-0
dc.identifierhttp://dx.doi.org/10.3390/cells10113099
dc.identifier.citationCells, v. 10, n. 11, 2021.
dc.identifier.doi10.3390/cells10113099
dc.identifier.issn2073-4409
dc.identifier.scopus2-s2.0-85118638698
dc.identifier.urihttp://hdl.handle.net/11449/229848
dc.language.isoeng
dc.relation.ispartofCells
dc.sourceScopus
dc.subjectIPSCs
dc.subjectPGCLCs
dc.subjectTurner syndrome
dc.titleGeneration of primordial germ cell-like cells from iPSCs derived from turner syndrome patientsen
dc.typeArtigo

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