Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations Article Swipe
E. F. Evans
,
Guibin Chen
,
Ivan Pavlinov
,
Xiuli Huang
,
Kaari L. Linask
,
Chengyu Liu
,
Angel F. López
,
Melissa A. Gilbert
,
Nancy B. Spinner
,
Steven Rodemse
,
Karsten Baumgärtele
,
Catherine Z. Chen
,
Jizhong Zou
,
Wei Zheng
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.scr.2024.103634
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.scr.2024.103634
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.
Related Topics
Concepts
Alagille syndrome
Biology
Induced pluripotent stem cell
JAG1
Stem cell
Cell culture
Mutation
Genetics
Cancer research
Cell biology
Embryonic stem cell
Gene
Notch signaling pathway
Endocrinology
Cholestasis
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.scr.2024.103634
- OA Status
- gold
- References
- 4
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4405494018
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4405494018Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.scr.2024.103634Digital Object Identifier
- Title
-
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-12-17Full publication date if available
- Authors
-
E. F. Evans, Guibin Chen, Ivan Pavlinov, Xiuli Huang, Kaari L. Linask, Chengyu Liu, Angel F. López, Melissa A. Gilbert, Nancy B. Spinner, Steven Rodemse, Karsten Baumgärtele, Catherine Z. Chen, Jizhong Zou, Wei ZhengList of authors in order
- Landing page
-
https://doi.org/10.1016/j.scr.2024.103634Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1016/j.scr.2024.103634Direct OA link when available
- Concepts
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Alagille syndrome, Biology, Induced pluripotent stem cell, JAG1, Stem cell, Cell culture, Mutation, Genetics, Cancer research, Cell biology, Embryonic stem cell, Gene, Notch signaling pathway, Endocrinology, CholestasisTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
4Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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