Evidence map›Paper›PMID 37890331›Full record

ArticleStem cell research2023

Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.

Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Chengyu Liu, Karsten Baumgärtel, Melissa Gilbert, Nancy Spinner, Catherine Chen and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 23% of its field
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024
    Review
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

12 authors at 3 institutions in 1 country.

Omer HatimNational 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.
Miao XuNational 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.
Chengyu LiuTransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Karsten BaumgärtelTravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA.
Melissa GilbertDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nancy 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.
Jizhong ZouiPSC Core, National Heart, Lung and Blood Institute, 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.
National Institutes of Health · USChildren's Hospital of Philadelphia · USTherapeutics Clinical Research · US

Funding

Drug Repurposing Screening for Rare and Neglected DiseasesZIATR000018 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI ZHENG, WEI · 2015 to 2025
$24.6M
Intramural NIH HHS Z99 TR999999Intramural NIH HHS ZIA TR000018
6 · The paper itself

Abstract

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

Indexed as

Alagille SyndromeInduced Pluripotent Stem CellsHumansJagged-1 ProteinMutationJAG1 protein, humanJagged-1 ProteinAlagille syndromeALGSHuman induced pluripotent stem cellsiPSC characterizationiPSC cultureiPSC passaging

Identifiers

PMID37890331
PMCPMC10842201
OpenAlexW4387840326

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.