In Vitro Model Of Spinal Muscular Atrophy
A population of iPS cells derived from somatic cells from a spinal muscular atrophy patient is disclosed. In one embodiment of the invention, the cells have been cultured to produce neural cells. In another embodiment, the invention is a method of testing compounds for their ability to modify cellular SMN levels comprising the steps of obtaining a population of iPS cells derived from a spinal muscular atrophy patient or cells derived from the iPS cells, and examining the effect of a test compound on SMN levels.
1 . An isolated population of iPS cells derived from somatic cells from a spinal muscular atrophy patient, wherein the iPS cells have the SMA 1 disease genotype, and wherein the iPS cells are capable of differentiation into motor neurons that maintain an SMA disease genotype and phenotype.
2 - 3 . (canceled)
4 . The iPS cells of claim 1 , wherein the cells are capable of expansion in culture characteristic of iPS cells.
5 . The population of claim 1 wherein the cells have been cultured to produce neural cells.
6 . The cells of claim 5 , wherein the cells are Tuj1-positive neurons.
7 . The cells of claim 5 , wherein the cells are G FAP-positive astrocytes.
8 . The cells of claim 5 , wherein the cells are positive for SMN1-32 and ChAT staining.
9 - 17 . (canceled)