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Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease.
Lucchino, Valeria; Scaramuzzino, Luana; Scalise, Stefania; Grillone, Katia; Lo Conte, Michela; Esposito, Claudia; Aguglia, Umberto; Ferlazzo, Edoardo; Perrotti, Nicola; Malatesta, Paola; Parrotta, Elvira Immacolata; Cuda, Giovanni.
Affiliation
  • Lucchino V; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: valeria.lucchino@unicz.it.
  • Scaramuzzino L; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: scaramuzzino.luana@unicz.it.
  • Scalise S; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: stefania.scalise@unicz.it.
  • Grillone K; Department of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, Italy. Electronic address: k.grillone@unicz.it.
  • Lo Conte M; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: michela.loconte@studenti.unicz.it.
  • Esposito C; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: claudia.esposito@studenti.unicz.it.
  • Aguglia U; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: u.aguglia@unicz.it.
  • Ferlazzo E; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: ferlazzo@unicz.it.
  • Perrotti N; Department of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, Italy. Electronic address: perrotti@unicz.it.
  • Malatesta P; Department of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, Italy. Electronic address: p.malatesta@unicz.it.
  • Parrotta EI; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: parrotta@unicz.it.
  • Cuda G; Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: cuda@unicz.it.
Stem Cell Res ; 53: 102329, 2021 05.
Article in En | MEDLINE | ID: mdl-33865103
ABSTRACT
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 CSTB gene promoter. This expansion is causative of the downregulation of CSTB gene expression and, consequently, of its inhibitory activity. Here we report the generation of induced pluripotent stem cell (iPSC) lines from two Italian siblings having a family history of ULD and affected by different clinical and pathological phenotypes of the disease.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Unverricht-Lundborg Syndrome / Induced Pluripotent Stem Cells Limits: Humans Country/Region as subject: Europa Language: En Journal: Stem Cell Res Year: 2021 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Unverricht-Lundborg Syndrome / Induced Pluripotent Stem Cells Limits: Humans Country/Region as subject: Europa Language: En Journal: Stem Cell Res Year: 2021 Document type: Article