| Autor: |
Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Chengyu Liu, Karsten Baumgärtel, Melissa Gilbert, Nancy Spinner, Catherine Chen, Jizhong Zou, Wei Zheng |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 73, Iss , Pp 103231- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2023.103231 |
| Popis: |
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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