To study the molecular mechanisms of Usher syndrome and develop a gene therapy strategy, researchers generated human iPSCs from peripheral blood mononuclear cells obtained from a patient carrying compound heterozygous variants of USH2A c.2299delG and c.1256G>T and the patient’s healthy sibling.
[Genes]
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Liu, X., Lillywhite, J., Zhu, W., Huang, Z., Clark, A. M., Gosstola, N., Maguire, C. T., Dykxhoorn, D., Chen, Z.-Y., & Yang, J. (2021). Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells. Genes, 12(6), 805. https://doi.org/10.3390/genes12060805 Cite