Spinal muscular atrophy (SMA) is one of the most common inherited forms of neurological disease leading to infant mortality. Patients exhibit selective loss of lower motor neurons resulting in muscle weakness, paralysis, and often death. The induced pluripotent stem cell model from fibroblasts harbors exon 7 and 8 deletion in both SMN1and SMN2 gene, then differentiate into motor neurons, belongs to subtype SMA3. This disease model provides a platform to explore disease mechanisms in SMA.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Spinal Muscular Atrophy (SMA) |
| Target Gene | SMN2 |
| Gene Function | SMN is a ubiquitously-expressed protein that plays a central role RNA biogenesis; regulating the assembly of small nuclear ribonucleic proteins (snRNPs) in the cytoplasm and their subsequent transport into the nucleus |
| Mutation | SMN1 Exon7, 8 DEL/SMN2 Exon7, 8 DEL |
| Phenotype | SMN protein level was also significantly lower |
| Source | Fibroblasts |
| Cellular Assays | Immunohisto/cytochemistry, Western Blotting, SDS-PAGE, Mass spectrometry analysis |
For Research Use Only. Not For Clinical Use.
