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
; 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.
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