Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient
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. Copyright © 2025. Published by Elsevier B.V.
| Authors | Trentini G, Cazzanelli G, Cardano M, Palumbo O, Benvenuto M, Palumbo P, Agriesti F, Piccoli C, Conti L, Defeat-Ld Study Group, Carella M, Lolli G, d'Orsi G |
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| Journal | Stem cell research |
| Publication Date | 2025 Jul 28;87:103792 |
| PubMed | 40743712 |
| DOI | 10.1016/j.scr.2025.103792 |