In Vitro Model Of Spinal Muscular Atrophy

Abstract

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)