Amyotrophic lateral sclerosis (ALS) is a rare neurological disease that primarily affects motor neurons responsible for controlling voluntary muscle movement. A hallmark of ALS is the accumulation of TDP-43 aggregates and the mis-splicing of STMN2, which can not be replicated with animal models. This hampers the development of disease-modifying therapies and creates a strong need to develop translational models that show disease-associated phenotypes and do replicate pathological mechanisms.
In this case study, Ncardia generated a human iPSC-derived ALS model with TDP-43 mutant motor neurons* and developed specific assays to quantify disease-linked phenotypes such as mis-localization and aggregation of TDP-43, as well as STMN2 mis-splicing and electrophysiological dysfunction. Moreover, this unique in vitro cell model was generated without the need of a chemical stressor, which provides an even more physiologically relevant context to study ALS etiology and advance therapeutic development with high confidence.
* iCell ® Motor Neurons, 01279 from FUJIFILM Cellular Dynamics, Inc.
This case study describes how Ncardia successfully generated an ALS disease model using motor neurons with a TDP-43 point mutation and developed assays to quantify disease relevant phenotypes.
Download the case study and discover the benefits:
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A non-chemical induced in vitro model base on human biology
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Replication of the most relevant ALS associated phenotypes
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Custom assays and high-throughput screening readily available