Evidence map›Paper›PMID 34088014›Full record

ArticleStem cell research2021

Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.

Brianna M Brooks, Charles D Yeh, Jeanette Beers, Chengyu Liu, Yu-Shan Cheng, Kirill Gorshkov, Jizhong Zou, Wei Zheng, Catherine Z Chen

Open access · goldAbstract read
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
0.2field-weighted citation impact, top 47% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

9 authors at 1 institution in 1 country.

Brianna M BrooksNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Charles D YehNational 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.
Chengyu LiuTransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Yu-Shan ChengNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Kirill GorshkovNational 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.
Catherine Z ChenNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: catherine.chen@nih.gov.
National Institutes of Health · US

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

Farber disease is an ultra-rare lysosomal storage disease. Mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which encodes for the enzyme acid ceramidase (ACDase), cause ceramides to accumulate in the body. A human induced pluripotent stem cell (iPSC) line TRNDi030-A was generated from fibroblasts of a male patient with a homozygous p. Y36C (c.107 A>G) variant in the second exon of the ASAH1 producing the alpha subunit of ACDase. This Farber disease iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics for treatment of patients with Farber disease.

Indexed as

Farber LipogranulomatosisInduced Pluripotent Stem CellsAcid CeramidaseHomozygoteHumansMaleMutationAcid CeramidaseASAH1 protein, human

Identifiers

PMID34088014
PMCPMC8314383
OpenAlexW3160005677

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.