Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
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Author / Creator
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 and Feldman, Ricardo A
Publisher
United States: National Academy of Sciences
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English
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United States: National Academy of Sciences
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Contents
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/Rec NciI), and type 3 (L444P/L444P) GD. Pluripotency was demonstrated by t...
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Full title
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
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TN_cdi_proquest_journals_1128366314
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1128366314
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1207889109
