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

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

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...

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Bibliographic Details
Main Authors: Gabriele Trentini, Giulia Cazzanelli, Marina Cardano, Orazio Palumbo, Mario Benvenuto, Pietro Palumbo, Francesca Agriesti, Claudia Piccoli, Luciano Conti, DEFEAT-LD Study Group, Massimo Carella, Graziano Lolli, Giuseppe d’Orsi
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125001424
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Summary: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.
ISSN:1873-5061

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