Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease

Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease

Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy caused by mutations in the gene encoding Cystatin B (CSTB), an inhibitor of lysosomal proteases. The most common mutation described in ULD patients is an unstable expansion of a dodecamer sequence located in the...

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Main Authors: Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Katia Grillone, Michela Lo Conte, Claudia Esposito, Umberto Aguglia, Edoardo Ferlazzo, Nicola Perrotti, Paola Malatesta, Elvira Immacolata Parrotta, Giovanni Cuda
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121001756

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http://www.sciencedirect.com/science/article/pii/S1873506121001756

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