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Updated: Sep 13, 2025

Selecting and Isolating Colonies of Human Induced Pluripotent Stem Cells Reprogrammed from Adult Fibroblasts
Published on: February 20, 2012
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient
Gabriele Trentini1, Giulia Cazzanelli1, Marina Cardano1
1Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, via Sommarive 9, 38123 Povo - Trento, Italy.
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.
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