Work

Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient

Year: 2025

Type: article

Abstract: An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease. The patient is homozygous for the c.721C>T, p.(Arg241*) nonsense variant in the EPM2A gene, which codes for the laforin protein. The generated iPSC line possesses a normal karyotype, expresses pluripotency markers, and can differentiate into derivatives of the three germ layers. It is configured as a useful tool for both disease modeling and therapy development.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103792

Authors: Gabriele Trentini, Giulia Cazzanelli, Marina Cardano, Orazio Palumbo, Mario Benvenuto, Pietro Palumbo, Francesca Agriesti, Claudia Piccoli, Luciano Conti, Francesca Bisulli, Lidia Di Vito, Laura Licchetta, Raffaele Lodi, Lorenzo Muccioli, Serena Mazzone, Roberto Michelucci, Elena Pasini, Maria Tappatà, Luca Vignatelli, Corrado Zenesini, Cinzia Costa, Giuseppe Damante, Valentina Imperatore, Paola Mantuano, Paolo Prontera, Massimo Carella, Graziano Lolli, Giuseppe d’Orsi

Institutions: University of Trento, Casa Sollievo della Sofferenza, University of Foggia

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360

Funders: European Commission, Universita degli Studi di Bari Aldo Moro, Università degli Studi di Udine, Università degli Studi di Perugia, Dipartimento di Medicina e Chirurgia, Università degli Studi di Milano-Bicocca, FP7 Coordination of Research Activities

Awards: G2810649435, G3149653015, G8168193616

OpenAlex ID: W4412704403

FWCI:

Cites: 5

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Related to: 10