Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China.
National Research Institute for Family Planning, Beijing 100081, China; Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China; National Human Genetic Resources Center, Beijing 102206, China.
Stem Cell Res. 2023 Aug;70:103120. doi: 10.1016/j.scr.2023.103120. Epub 2023 May 16.
Pathogenic variants in Jagged-1 (JAG1), which encodes the ligand of the Notch receptor, had been demonstrated to cause Alagille syndrome. However, there is no evidence to support any genotype-phenotype correlations. Here, we generated a gene-edited human embryonic stem cell (hESC) line (H9) carrying the c.1615C > T mutation in JAG1 that was identified in a patient with Alagille syndrome (ALGS). This modified cell line was accomplished by using cytosine base editor (CBE), and may serve as a valuable model for JAG1 mutaion related disease, and facilitate to gain more insight into the biological function of JAG1.
Jagged-1 (JAG1) 基因中的致病性变异可导致 Notch 受体配体发生改变，从而引发 Alagille 综合征。然而，目前尚无证据支持任何基因型-表型相关性。本研究构建了携带 Alagille 综合征（ALGS）患者 JAG1 基因 c.1615C > T 突变的基因编辑人胚胎干细胞（hESC）系（H9）。该修饰细胞系通过胞嘧啶碱基编辑器（CBE）实现，可作为 JAG1 突变相关疾病的有价值模型，有助于深入了解 JAG1 的生物学功能。
