Pnas nexus 1-13 research report second hit impels oncogenesis of retinoblastoma in patient-induced pluripotent stem_cell-derived retinal organoids: direct evidence for knudson`s theory

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SUMMARY

    In nonheritable Rb, instead of occurrence in germline cells, two hits occur in the same susceptible somatic cell during retinogenesis. Similarly, studies in mouse models showed that inactivation of Rb1 leads to embryonic death by E14.5, and Rb only develops when the Rb1 gene is lost together with inactivation of other Rb-related genes during retinogenesis. 958C > T mutation in the wildtype allele of RB1 in iPSC-RB1m1/wt by targeting exon 10 of the RB1 gene using the CRISPR/Cas9 gene editing system (Fig 1F; Fig S1A). RNA sequencing (RNA-seq) analysis . . .

     

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