Author(s): Souza, Aline Fernanda de ; Bressan, Fabiana Fernandes ; Pieri, Naira Caroline Godoy ; Botigelli, Ramon Cesar [UNESP] ; Revay, Tamas ; Haddad, Simone Kashima ; Covas, Dimas Tadeu ; Ramos, Ester Silveira ; King, Willian Allan ; Meirelles, Flavio Vieira
Date: 2022
Persistent ID: http://hdl.handle.net/11449/229848
Origin: Oasisbr
Subject(s): IPSCs; PGCLCs; Turner syndrome
Made available in DSpace on 2022-04-29T08:36:14Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-11-01
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Turner 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.
Department of Veterinary Medicine Faculty of Animal Science and Food Engineering University of São Paulo (USP)
Department of Biomedical Sciences Ontario Veterinary College (OVC) University of Guelph
Department of Pharmacology Institute of Biosciences (IBB) São Paulo State University (UNESP)
Department Alberta Children’s Hospital Research Institute (ACHRI) University of Calgary
Center for Cell-based Therapy Regional Blood Center of Ribeirão Preto Ribeirão Preto Medical School University of São Paulo
Department of Genetics Ribeirão Preto Medical School University of São Paulo
Department of Pharmacology Institute of Biosciences (IBB) São Paulo State University (UNESP)
FAPESP: 2015/26818-5
FAPESP: 2017/12140-2
FAPESP: 2019/08346-0
