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

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

doi:10.1016/j.scr.2021.102329

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

Stem Cell Res. 2021 May:53:102329. doi: 10.1016/j.scr.2021.102329. Epub 2021 Apr 9.

Authors

Affiliations

¹ Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: valeria.lucchino@unicz.it.
² Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: scaramuzzino.luana@unicz.it.
³ Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: stefania.scalise@unicz.it.
⁴ 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.
⁵ Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: michela.loconte@studenti.unicz.it.
⁶ Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: claudia.esposito@studenti.unicz.it.
⁷ Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: u.aguglia@unicz.it.
⁸ Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: ferlazzo@unicz.it.
⁹ 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.
¹⁰ 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.
¹¹ Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy. Electronic address: parrotta@unicz.it.
¹² Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy. Electronic address: cuda@unicz.it.

PMID: 33865103
DOI: 10.1016/j.scr.2021.102329

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystatin B / genetics
Humans
Induced Pluripotent Stem Cells*
Italy
Siblings
Unverricht-Lundborg Syndrome*

Substances

Cystatin B