Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Stem Cell Res. 2023 Sep;71:103177. doi: 10.1016/j.scr.2023.103177. Epub 2023 Aug 1.
Alagille syndrome (ALGS) is an autosomal dominant disease affecting the liver, heart and other organs with high variability. About 95% of ALGS cases are associated with pathogenic variants in JAG1, encoding the Jagged1 ligand that binds to Notch receptors. The iPSC line NCHi012-A was derived from an ALGS patient with cholestatic liver disease and mild pulmonary stenosis, who is heterozygous for a 2 bp deletion in the JAG1 coding sequence. We report here an initial characterization of NCHi012-A to evaluate its morphology, pluripotency, differentiation potential, genotype, karyotype and identity to the source patient.
Alagille 综合征（ALGS）是一种常染色体显性遗传疾病，影响肝脏、心脏和其他器官，具有高度变异性。约 95%的 ALGS 病例与 JAG1 中的致病性变异相关，该基因编码 Jagged1 配体，与 Notch 受体结合。源自 ALGS 患者的 iPSC 系 NCHi012-A 患有胆汁淤积性肝病和轻度肺动脉瓣狭窄，该患者 JAG1 编码序列中有 2 个碱基对缺失，为杂合子。我们在此报告 NCHi012-A 的初步特征，以评估其形态、多能性、分化潜能、基因型、核型和与源患者的同一性。
