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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2021-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121001756 |
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doaj-2cda4cafb2f6426f83e831cd6607d2122021-05-30T04:41:35ZengElsevierStem Cell Research1873-50612021-05-0153102329Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg diseaseValeria Lucchino0Luana Scaramuzzino1Stefania Scalise2Katia Grillone3Michela Lo Conte4Claudia Esposito5Umberto Aguglia6Edoardo Ferlazzo7Nicola Perrotti8Paola Malatesta9Elvira Immacolata Parrotta10Giovanni Cuda11Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyDepartment of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyDepartment of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyDepartment of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, ItalyDepartment of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyDepartment of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, ItalyDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, ItalyDepartment of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, ItalyDepartment of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, ItalyDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy; Corresponding author.Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, ItalyUnverricht-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.http://www.sciencedirect.com/science/article/pii/S1873506121001756 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease Stem Cell Research |
| author_facet |
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 |
| author_sort |
Valeria Lucchino |
| title |
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease |
| title_short |
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease |
| title_full |
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease |
| title_fullStr |
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease |
| title_full_unstemmed |
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease |
| title_sort |
generation of human induced pluripotent stem cell lines (unimgi003-a and unimgi004-a) from two italian siblings affected by unverricht-lundborg disease |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2021-05-01 |
| description |
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. |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506121001756 |
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