Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin fibroblasts from patients with type 1 (N370S/N370S), type 2 (L444P/RecNciI), and type 3 (L4...

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Detalhes bibliográficos
Main Authors: Panicker, Leelamma M., Miller, Diana, Park, Tea Soon, Patel, Brijesh, Azevedo, Judi L., Awad, Ola, Masood, M. Athar, Veenstra, Timothy D., Goldin, Ehud, Stubblefield, Barbara K., Tayebi, Nahid, Polumuri, Swamy K., Vogel, Stefanie N., Sidransky, Ellen, Zambidis, Elias T., Feldman, Ricardo A.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2012
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3497826/
https://ncbi.nlm.nih.gov/pubmed/23071332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1207889109
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