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

• Autor(a) principal: Souza, Aline Fernanda de
• Data de Publicação: 2021
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNESP
• Texto Completo: http://dx.doi.org/10.3390/cells10113099; http://hdl.handle.net/11449/229848
• topic: IPSCs; PGCLCs; Turner syndrome

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.