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Generation of human induced pluripotent stem cell lines carrying homozygous JAG1 deletions.

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JAG1gene encodes Jagged1 protein, which is a ligand for NOTCH receptors. JAG1 mutations cause Alagille syndrome, in which liver failure occurs caused by abnormalities in the bile ducts. In this… Click to show full abstract

JAG1gene encodes Jagged1 protein, which is a ligand for NOTCH receptors. JAG1 mutations cause Alagille syndrome, in which liver failure occurs caused by abnormalities in the bile ducts. In this study, we generated two homozygous JAG1 knockout iPSC lines (JAG1KO iPSC) by creating indels with CRISPR-Cas9 technology. These newly generated JAG1KO iPSC lines showed similar self-renewal and pluripotency as their original iPSC WTC11 line. These iPSC lines carried deletions around the translation start codon of JAG1 gene, causing compromised Jagged1 protein expression. These JAG1KO iPSC lines are promising bioresources to studyJagged1 function in human development and pathology.

Keywords: homozygous jag1; stem cell; ipsc lines; human; ipsc

Journal Title: Stem cell research
Year Published: 2021

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