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• W2890141719 endingPage "1263" @default.
• W2890141719 startingPage "1252" @default.
• W2890141719 abstract "Spinal muscular atrophy (SMA) is a kind of neuromuscular disease characterized by progressive motor neuron loss in the spinal cord. It is caused by mutations in the survival motor neuron 1 (SMN1) gene. SMN1 has a paralogous gene, survival motor neuron 2 (SMN2), in humans that is present in almost all SMA patients. The generation and genetic correction of SMA patient-specific induced pluripotent stem cells (iPSCs) is a viable, autologous therapeutic strategy for the disease. Here, c-Myc-free and non-integrating iPSCs were generated from the urine cells of an SMA patient using an episomal iPSC reprogramming vector, and a unique crRNA was designed that does not have similar sequences (≤3 mismatches) anywhere in the human reference genome. In situ gene conversion of the SMN2 gene to an SMN1-like gene in SMA-iPSCs was achieved using CRISPR/Cpf1 and single-stranded oligodeoxynucleotide with a high efficiency of 4/36. Seamlessly gene-converted iPSC lines contained no exogenous sequences and retained a normal karyotype. Significantly, the SMN expression and gems localization were rescued in the gene-converted iPSCs and their derived motor neurons. This is the first report of an efficient gene conversion mediated by Cpf1 homology-directed repair in human cells and may provide a universal gene therapeutic approach for most SMA patients." @default.
• W2890141719 created "2018-09-27" @default.
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• W2890141719 date "2018-11-01" @default.
• W2890141719 modified "2023-10-14" @default.
• W2890141719 title "Seamless Genetic Conversion of <i>SMN2</i> to <i>SMN1</i> via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells" @default.
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• W2890141719 doi "https://doi.org/10.1089/hum.2017.255" @default.
• W2890141719 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29598153" @default.
• W2890141719 hasPublicationYear "2018" @default.
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