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.
Trentini, G., Cazzanelli, G., Cardano, M., Palumbo, O., Benvenuto, M., Palumbo, P., et al. (2025). Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient. STEM CELL RESEARCH, 87, 1-4 [10.1016/j.scr.2025.103792].
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient
Francesca BisulliMembro del Collaboration Group
;Lidia Di Vito;Laura LicchettaMembro del Collaboration Group
;Raffaele LodiMembro del Collaboration Group
;Lorenzo MuccioliMembro del Collaboration Group
;Serena Mazzone;Elena Pasini;Luca Vignatelli;Corrado Zenesini;
2025
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.| File | Dimensione | Formato | |
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Trentini_Generation of a human_2025_Stem Cell Res.pdf
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