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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Vydáno v:Stem Cell Res
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8300001/
https://ncbi.nlm.nih.gov/pubmed/34198154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2021.102447
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