Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1
oleh: Brianna M. Brooks, Manisha Pradhan, Yu-Shan Cheng, Kirill Gorshkov, Atena Farkhondeh, Catherine Z. Chen, Jeanette Beers, Chengyu Liu, Karsten Baumgaertel, Steven Rodems, Wei Zheng
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2021-07-01 |
Deskripsi
Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS.