Evidence map›Paper›PMID 32114296›Full record

ArticleStem cell research2020

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.

Rong Li, Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D Porter, Wei Zheng

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

Article in Stem cell research, 2020. 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
0.5field-weighted citation impact, top 37% 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, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
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 3 institutions in 1 country.

Rong LiNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Rong.Li@nih.gov.
Manisha PradhanNational 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.
Amanda RoederNational 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.
Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, USA.
Wei ZhengNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Wei.Zheng@nih.gov.
National Institutes of Health · USNational Center for Advancing Translational Sciences · USNational Heart Lung and Blood Institute · 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
Basic and Translational Studies of Inborn Errors of MetabolismZIAHD008988 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$12.7M
Clinical Investigations of Inborn Errors of MetabolismZIAHD008989 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$5.1M
Intramural NIH HHS ZIA TR000018
6 · The paper itself

Abstract

Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a male patient that has a homozygous p.I1061T missense mutation in NPC1 using a non-integrating Sendai virus technique. This NPC1 iPSC line offers a useful resource for disease modeling and drug development.

Indexed as

Cell LineInduced Pluripotent Stem CellsNiemann-Pick DiseasesNiemann-Pick Disease, Type ACholesterolHumansIntracellular Signaling Peptides and ProteinsMaleMutationNiemann-Pick C1 ProteinCholesterolIntracellular Signaling Peptides and ProteinsNiemann-Pick C1 ProteinNPC1 protein, human

Identifiers

PMID32114296
PMCPMC7218921
OpenAlexW3007302148

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.