Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing
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 rele...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002502 |
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| author | Allisandra K. Rha Chloe L. Christensen Shih-Hsin Kan Jerry F. Harb Perla Andrade-Heckman Raymond Y. Wang |
| author_facet | Allisandra K. Rha Chloe L. Christensen Shih-Hsin Kan Jerry F. Harb Perla Andrade-Heckman Raymond Y. Wang |
| author_sort | Allisandra K. Rha |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-880812615ab5428faeb1a6a7d2e2a102 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-880812615ab5428faeb1a6a7d2e2a1022025-08-20T02:38:17ZengElsevierStem Cell Research1873-50612024-12-018110355210.1016/j.scr.2024.103552Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testingAllisandra K. Rha0Chloe L. Christensen1Shih-Hsin Kan2Jerry F. Harb3Perla Andrade-Heckman4Raymond Y. Wang5Research Institute, Children’s Hospital of Orange County, Orange, CA 92868, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA 92868, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA 92868, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA 92868, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA 92868, United StatesDivision of Metabolic Disorders, Children’s Hospital of Orange County Specialists, Orange, CA 92868, United States; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92697, United States; Corresponding author at: Division of Metabolic Disorders, Children’s Hospital of Orange County Specialists, Orange, CA 92868, United States, Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92697, United States.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.http://www.sciencedirect.com/science/article/pii/S1873506124002502GM1 gangliosidosisLysosomal storageBeta-galactosidase deficiency |
| spellingShingle | Allisandra K. Rha Chloe L. Christensen Shih-Hsin Kan Jerry F. Harb Perla Andrade-Heckman Raymond Y. Wang Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing Stem Cell Research GM1 gangliosidosis Lysosomal storage Beta-galactosidase deficiency |
| title | Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing |
| title_full | Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing |
| title_fullStr | Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing |
| title_full_unstemmed | Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing |
| title_short | Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing |
| title_sort | generation of an infantile gm1 gangliosidosis induced pluripotent stem cell line choci005 a for disease modeling and therapeutic testing |
| topic | GM1 gangliosidosis Lysosomal storage Beta-galactosidase deficiency |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002502 |
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