{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:51:04Z","timestamp":1785689464730,"version":"3.56.0"},"reference-count":77,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The CRISPR Journal"],"published-print":{"date-parts":[[2022,6,1]]},"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    gene cause X-linked ocular albinism type 1 (OA1), a disease that severely impairs vision. We recently generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of an OA1 patient carrying a point mutation in intron 7 of\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    . This mutation activates a new splice site causing the incorporation of a pseudoexon. In this study, we present a high-performance CRISPR-Cas ribonucleoprotein strategy to permanently correct the\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    mutation in these patient-derived iPSCs. Interestingly, the two single-guide RNAs available for SpCas9 did not allow the cleavage of the target region. In contrast, the cleavage achieved with the CRISPR-AsCas12a system promoted homology-directed repair at a high rate. The CRISPR-AsCas12a-mediated correction did not alter iPSC pluripotency or genetic stability, nor did it result in off-target events. Moreover, we highlight that the disruption of the pathological splice site caused by CRISPR-AsCas12a-mediated insertions\/deletions also rescued the normal splicing of\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    and its expression level.\n                  <\/jats:p>","DOI":"10.1089\/crispr.2021.0110","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T09:47:39Z","timestamp":1654854459000},"page":"457-471","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["CRISPR-AsCas12a Efficiently Corrects a\n                    <i>GPR143<\/i>\n                    Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism 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