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.
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient / Trentini, Gabriele; Cazzanelli, Giulia; Cardano, Marina; Palumbo, Orazio; Benvenuto, Mario; Palumbo, Pietro; Agriesti, Francesca; Piccoli, Claudia; Conti, Luciano; Carella, Massimo; Lolli, Graziano; D'Orsi, Giuseppe. - In: STEM CELL RESEARCH. - ISSN 1876-7753. - 87:(2025), pp. 1037921-1037924. [10.1016/j.scr.2025.103792]
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient
Trentini, Gabriele;Cazzanelli, Giulia;Cardano, Marina;Conti, Luciano;Lolli, Graziano
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2025-01-01
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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