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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8300001/
https://www.ncbi.nlm.nih.gov/pubmed/34198154
http://dx.doi.org/10.1016/j.scr.2021.102447

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8300001/
https://www.ncbi.nlm.nih.gov/pubmed/34198154
http://dx.doi.org/10.1016/j.scr.2021.102447

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