Spastic paraplegia type 7 is a rare and classical monogenic inherited neurodegenerative disease caused by heterozygous mutations in the SPG7 gene. The principle clinical features include progressive spasms of the… Click to show full abstract
Spastic paraplegia type 7 is a rare and classical monogenic inherited neurodegenerative disease caused by heterozygous mutations in the SPG7 gene. The principle clinical features include progressive spasms of the lower limbs, scissor gait, and muscle weakness. The disease currently has no effective treatment. In this study, we obtained dermal fibroblasts from a patient, which were successfully transformed into induced pluripotent stem cells (iPSCs) by employing reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our method provides a resource for mechanism exploration, drug research, cell transplantation, and gene therapy.
               
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