Evidence map›Paper›PMID 38703666›Full record

ArticleStem cell research2024

Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgärtel, Melissa A Gilbert and 3 more

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In one paragraph

Article in Stem cell research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Omer HatimNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Miao XuNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Ivan PavlinovNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Kaari LinaskiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Jeanette BeersiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Jizhong ZouiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Chengyu LiuTransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Steven RodemsTravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA.
Karsten BaumgärtelTravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA.
Melissa A GilbertDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nancy B SpinnerDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Catherine ChenNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Wei ZhengNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.

Funding

Transgenic CoreZICHL005907 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI LIU, CHENGYU · 2010 to 2025
$25.8M
Drug Repurposing Screening for Rare and Neglected DiseasesZIATR000018 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI ZHENG, WEI · 2015 to 2025
$24.6M
NHLBI iPSC Core FacilityZICHL006145 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI ZOU, JIZHONG · 2012 to 2025
$23.3M
Intramural NIH HHS ZIA TR000018
6 · The paper itself

Abstract

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

Indexed as

Alagille SyndromeHeterozygoteInduced Pluripotent Stem CellsJagged-1 ProteinMutationCell LineFemaleHumansMaleJAG1 protein, humanJagged-1 Protein

Identifiers

PMID38703666
PMCPMC11144073

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.