Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disease of the motor system, characterized by selective and progressive loss of motor neurons, eventually leading to paralysis and death within 2–5 years . iPSC-derived motor neurons are valuable tools for biochemical analysis, disease modelling and clinical application of this disease. Cytoplasmic accumulation and nuclear loss of the RNA binding protein transactive response DNA-binding protein 43 (TDP-43) from affected neurons in most instances of ALS [2-3]. Over 40 dominantly inherited mutations in the gene encoding TDP-43 have subsequently been identified in familial ALS patients , implicating TDP-43 dysfunction in the vast majority of ALS cases.
Human Motor Neurons (iPSC-derived, TDP-43 mutation, Q331K, HET) is derived from a genetically modified normal iPSC lineis derived from a genetically modified normal iPSC linecarrying the heterozygous Q331K mutation in the TDP43 gene (Figure 1). iXCells™ hiPSC-derived motor neurons express typical markers of motor neurons, e.g. HB9 (MNX1), ISL1, CHAT, with the purity higher than 85%. iXCells™ motor neurons are available in both cryopreserved vials (2 million cells/vial) and fresh plate formats (12-well plate or 96-well plate). Most of the cells will express high level of HB9 and ISL-1 after thawing in the Motor Neuron Culture Medium Kit (Cat# MD-0022-100ML). And after cultured in the medium for 5-7 days, these cells will express high levels of CHAT and MAP2.
Figure 1.Heterozygous Q331K mutation (highlighted in grey) has been introduced to TDP-43 gene using CRISPR/Cas9 based genome editing technology. The targeted site is verified by genomic PCR/Sanger sequencing.
|Tissue Origin||Human iPSC-derived motor neurons (TDP-43 mutation, Q331K, heterozygous)|
|Package Size||1.0 million cells/vial; 2.0 million cells/vial|
|Media||iXCells™ Motor Neuron Culture Medium Kit (Cat# MD-0022-100ML)|
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 Ling, S. C., Polymenidou, M. & Cleveland, D. W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 79, 416–438 (2013).
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