Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing
Summary
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates. Resources for GM1 disease modelling are limited, and access to relevant cell lines from human patients is not possible. Generation of iPSC lines from GM1 patient-derived dermal fibroblasts allows for disease modelling and therapeutic testing in 2D and 3D cell culture models relevant to CNS disorders, including various neuronal subtypes and cerebral organoids. The iPSC line described here will be critical to therapeutic development and set the foundation for translational gene therapy work. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Rha AK, Christensen CL, Kan SH, Harb JF, Andrade-Heckman P, Wang RY |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103552 |
| PubMed | 39303321 |
| DOI | 10.1016/j.scr.2024.103552 |