Article
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.
Stem cell research - 1 Jul 2021
Brooks Brianna M, Pradhan Manisha, Cheng Yu-Shan, Gorshkov Kirill, Farkhondeh Atena, Chen Catherine Z, Beers Jeanette, Liu Chengyu, Baumgaertel Karsten, Rodems Steven, Zheng Wei
Abstract excerpt
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....
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