Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line
Wei Shan1, Huajun Yang1, Qian Ren2
1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China.
Abstract:
The TSC1 gene is a tumor suppressor gene that encodes for the growth inhibitory protein hamartin. It was founded clinically relevant to tuberous sclerosis complex (TSC) and related epilepsy. Variants in TSC1 resulted in tuberous sclerosis, focal cortical dysplasia (FCD) Type II, pulmonary lymphangioleiomyomatosis and change in everolimus sensitivity. Here, we generated induced pluripotent stem cells (iPSC) from a normal individual by electroporation of peripheral blood mononuclear cells (PBMC), and further generated TSC1-knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had normal karyotype, free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.
