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
构建携带JAG1基因杂合突变(p.Cys693*)的阿拉吉尔综合征(ALGS)患者来源的诱导多能干细胞系(TRNDi036-A)
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作者: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
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2024 | 起止号: | 2024 Jun:77:103429. |
| doi: | 10.1016/j.scr.2024.103429 | 研究方向: | 发育与干细胞 |
| 细胞类型: | 干细胞 | |
Abstract
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.
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