Open AccessInduced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann‐Pick Disease Type A
Author(s) -
Long Yan,
Xu Miao,
Li Rong,
Dai Sheng,
Beers Jeanette,
Chen Guokai,
Soheilian Ferri,
Baxa Ulrich,
Wang Mengqiao,
Marugan Juan J.,
Muro Silvia,
Li Zhiyuan,
Brady Roscoe,
Zheng Wei
Publication year - 2016
Publication title -
stem cells translational medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.781
H-Index - 71
eISSN - 2157-6580
pISSN - 2157-6564
DOI - 10.5966/sctm.2015-0373
Subject(s) - induced pluripotent stem cell , neural stem cell , lysosomal storage disease , stem cell , acid sphingomyelinase , neurodegeneration , biology , microbiology and biotechnology , sphingomyelin , cancer research , embryonic stem cell , disease , biochemistry , medicine , pathology , cholesterol , gene , enzyme
Niemann‐Pick disease type A (NPA)‐induced pluripotent stem cells from patient dermal fibroblasts were differentiated into neural stem cells. By using the differentiated NPA neuronal cells as a cell‐based disease model system, α‐tocopherol, δ‐tocopherol, and hydroxypropyl‐β‐cyclodextrin significantly reduced sphingomyelin accumulation in these NPA neuronal cells. This cell‐based NPA model can be used for further study of disease pathophysiology and for high‐throughput screening of compound libraries to identify lead compounds for drug development.