Evidence map›Paper›PMID 34051448›Full record

ArticleStem cell research2021

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.

Manisha Pradhan, Atena Farkhondeh, Yu-Shan Cheng, Miao Xu, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

11 authors.

Manisha PradhanNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Atena FarkhondehNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: atena.farkhondehkalat@nih.gov.
Yu-Shan ChengNational 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.
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.
Matthew MightUniversity of Alabama at Birmingham, Birmingham, AL, 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.
Wei ZhengNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Wei.Zheng@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

NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients.

Indexed as

Induced Pluripotent Stem CellsCell LineChild, PreschoolGlycoproteinsHeterozygoteHumansMutationPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseGlycoproteinsNGLY1 protein, humanPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

Identifiers

PMID34051448
PMCPMC8362228

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.