Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

从两名患有阿拉吉勒综合征且携带杂合 JAG1 突变的患者中生成诱导多能干细胞系 TRNDi037-A 和 TRNDi038-A

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作者:Evans Elena F, Chen Guibin, Pavlinov Ivan, Huang Xiuli, Linask Kaari, Liu Chengyu, Lopez Alexander Rodriguez, Gilbert Melissa A, Spinner Nancy B, Rodemse Steven, Baumgärtele Karsten, Chen Catherine Z, Zou Jizhong, Zheng Wei
Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

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