Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene

Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts f...

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Detalles Bibliográficos
Autores principales: Christensen, Chloe, Heckman, Perla, Rha, Allisandra, Kan, Shih-Hsin, Harb, Jerry, Wang, Raymond
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281086/
https://www.ncbi.nlm.nih.gov/pubmed/37167752
http://dx.doi.org/10.1016/j.scr.2023.103117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281086/
https://www.ncbi.nlm.nih.gov/pubmed/37167752
http://dx.doi.org/10.1016/j.scr.2023.103117

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