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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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
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author 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
author_facet 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
author_sort Brooks, Brianna M.
collection PubMed
description 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 induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS.
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spelling pubmed-83000012021-07-23 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 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 Stem Cell Res Article 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 induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS. 2021-06-24 2021-07 /pmc/articles/PMC8300001/ /pubmed/34198154 http://dx.doi.org/10.1016/j.scr.2021.102447 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
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
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url 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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