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New UM Stem Cell Line Targets Charcot-Marie-Tooth Studies

The line, known as UM11-1PGD, was derived from a cluster of about 30 cells removed from a donated five-day-old embryo that carried the gene defect responsible for Charcot-Marie-Tooth (CMT) disease, a hereditary neurological disorder characterized by a slowly progressive degeneration of the muscles in the foot, lower leg and hand. CMT is one of the most common inherited neurological disorders, affecting one in 2,500 people in the United States. People with CMT usually begin to experience symptoms in adolescence or early adulthood.

The embryo used to create the cell line was never frozen, but rather was transported from another IVF laboratory in the state of Michigan to the UM in a special container. This may mean that these stem cells will have unique characteristics and utilities in understanding CMT disease progression or screening therapies in comparison to other human embryonic stem cells.

Gary Smith, Ph.D., who derived the line, is co-director of the UM Consortium for Stem Cell Therapies, part of the A. Alfred Taubman Medical Research Institute.

UM is one of only four institutions - including two other universities and one private company - to have disease-specific stem cell lines listed in the national registry. UM has several other disease-specific hESC lines submitted to NIH and awaiting approval, according to Smith. The first line, which Smith also developed, is genetically normal. It was accepted to the registry in February.

UM works with Genesis Genetics, a Michigan-based genetic diagnostic company, in creating the lines.

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