Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation
Summary
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. We generated SDQLCHi080-A cell line from a patient with GM1 gangliosidosis carrying mutations of c.523C > T and c.574T > C > T in the GLB1 gene. The cell line exhibited typical iPSC morphology, expressed high levels of stemness markers, exhibited normal karyotype, and has the capability to differentiate into three germ layers. This cell line could provide a useful GM1 gangliosidosis model in vitro for further study. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Guan J, Duan C, Lv Y, Zhang H, Liu G, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103545 |
| PubMed | 39213692 |
| DOI | 10.1016/j.scr.2024.103545 |