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

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

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...

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Main Authors: 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
Language:English
Published: Elsevier 2021-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002944

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http://www.sciencedirect.com/science/article/pii/S1873506121002944

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