Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
oleh: Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgärtel, Melissa A. Gilbert, Nancy B. Spinner, Catherine Chen, Wei Zheng
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2024-06-01 |
Deskripsi
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.