Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene
Summary
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study is aimed to create a patient-derived human induced pluripotent stem cell (hiPSC) line with a specific nonsense mutation to better characterize the etiopathogenesis of the disease. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Baggiani M, Santorelli FM, Mero S, Privitera F, Damiani D, Tessa A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103472 |
| PubMed | 38889632 |
| PubMed Central | PMC11307172 |
| DOI | 10.1016/j.scr.2024.103472 |