Human Motor Neurons (iPSC-derived, SOD1 mutant, A4V, HOM)

Product Description

Spinal motor neurons (MNs) are a highly specialized type of neurons that reside in the ventral hos and project axons to muscles to control their movement. Degeneration of MNs is implicated in a number of devastating diseases, including spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth and poliomyelitis disease.  iPSC-derived motor neurons are valuable tools for biochemical analysis, disease modelling and clinical application of these diseases. Mutations (over 150 identified to date) in the SOD1 gene have been linked to familial ALS ^(1-3). The most frequent mutations are A4V and H46R. A4V (alanine at codon 4 changed to valine) is the most common ALS-causing mutation in the U.S. population, with approximately 50% of SOD1-ALS patients carrying the A4V mutation ^(4-6). Approximately 10 percent of all U.S. familial ALS cases are caused by heterozygous A4V mutations in SOD1.

Human Motor Neurons (iPSC-derived, SOD1 mutant, A4V, HOM) is derived from a genetically modified normal iPSC line carrying the A4V mutation (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 Maintenance Medium (Cat# MD-0022). And after cultured in the medium for 5-7 days, these cells will express high levels of CHAT and MAP2.

Figure 1. A4V mutation (red arrow) and two silent mutations (green arrows) have been introduced to SOD1 gene using CRISPR/Cas9 based genome editing technology. The targeted site is verified by genomic PCR/Sanger sequencing.

Product Details

References

(1) Conwit RA (December 2006). "Preventing familial ALS: a clinical trial may be feasible but is an efficacy trial warranted?". Joual of the Neurological Sciences. 251 (1–2): 1–2.

(2) Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Current Opinion in Neurology. 13 (4): 397–405.

(3) Redler RL, Dokholyan NV (2012-01-01). "The complex molecular biology of amyotrophic lateral sclerosis (ALS)". Progress in Molecular Biology and Translational Science. Progress in Molecular Biology and Translational Science. 107: 215–62.

(4) Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (June 1994). "A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis". Human Molecular Genetics. 3 (6): 981–7.

(5) Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH (February 1997). "Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis". Annals of Neurology. 41 (2): 210–21.

(6) Valentine JS, Hart PJ (April 2003). "Misfolded CuZnSOD and amyotrophic lateral sclerosis". Proceedings of the National Academy of Sciences of the United States of America. 100 (7): 3617–22.

 Download Datasheet