Spinal muscular atrophy (SMA) Type I, also called Werdnig-Hoffmann disease, is a neuromuscular disorder characterized by the degeneration of spinal cord motor neurons, caused by a loss or mutation of the SMN1 gene. Affected individuals develop severe weakness and atrophy of the muscles used in crawling, walking, swallowing and breathing.

This iPSC collection, deposited by Dr. Su-Chun Zhang from the University of Wisconsin-Madison, serves as a model for the SMN1 gene mutation. The collection consists of iPSC lines reprogrammed from fibroblasts of three affected type-1 SMA donors with homozygous deletions in the SMN1 gene, and two carriers with heterozygous deletions in the SMN1 gene that are clinically unaffected. Cell lines available include those from an affected donor and carrier donors within the same family. Additional information regarding relationships can be found here.

The publication describing this collection of iPSC lines may be found here.