C9orf72 is present in ~ 40% of familial ALS and 8-10 % of sporadic ALS. It is the most common mutation related to ALS - far more common than SOD1 or TDP-43.
Axol's Human iPSC-Derived Motor Neuron Progenitors from a female donor diagnosed with amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), carrying C9orf72 hexanucleotide expansion.
The repeat expansion of the parental iPSC line of the motor neuron progenitor was determined by Southern blot. Additionally, we have characterised the expansion using a PCR based approach. The experiment was carried out with standard genomic DNA extraction followed by AmplideX C9orf72 PCR expansion (AmplideX® PCR/CE C9orf72 Kit). Sizing was performed separately by capillary electrophoresis. The AmplideX kit can characterize number of repeats accurately up to 145 and detect alleles with greater than 145 repeats. By using this kit, we have confirmed the C9orf72 extension present in our ax0074 motor neuron progenitors has greater than 145 GGGGCC repeats.