Article
Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11.
Stem cell research - 1 May 2021
Zhu Wei, Cheng Yu-Shan, Xu Miao, Farkhondeh Atena, Beers Jeanette, Zou Jizhong, Liu Chengyu, Baumgaertel Karsten, Rodems Steven, Zheng Wei
Abstract excerpt
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway, including the mutation in JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 3-month-old patient with heterozygous mutation at JAG1 splicing site (Chr20: 10,629,709C>A) before exon 11. This iPSC model...
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