Evidence map›Paper›PMID 36257093›Full record

ArticleStem cell research2022

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control.

Ben N Stansfield, Sampath Rangasamy, Keri Ramsey, May Khanna, Jared M Churko

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

Article in Stem cell research, 2022. 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
0.4field-weighted citation impact, top 35% 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, 1 citations in OpenAlex.

  1. 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

5 authors at 2 institutions in 1 country.

Ben N StansfieldDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA; Sarver Heart Center, University of Arizona, Tucson, AZ, USA; Department of Physiology, University of Arizona Health Sciences, Tucson, AZ 85724, USA.
Sampath RangasamyTGen, Phoenix, AZ 85004, USA.
Keri RamseyTGen, Phoenix, AZ 85004, USA.
May KhannaDepartment of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ 85724, USA; Center for Innovation in Brain Science, Tucson, AZ 85721, USA.
Jared M ChurkoDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA; Sarver Heart Center, University of Arizona, Tucson, AZ, USA; Department of Physiology, University of Arizona Health Sciences, Tucson, AZ 85724, USA; Center for Innovation in Brain Science, Tucson, AZ 85721, USA.
University of Arizona · USTranslational Genomics Research Institute · US

Funding

Notch signaling in cardiomyocyte transcriptome signaturesR00HL128906 · NHLBI · UNIVERSITY OF ARIZONA · PI CHURKO, JARED · 2018 to 2020
$704k
Targeting Necroptosis for Neurodegenerative Disease TherapyR41AG069606 · NIA · REGENERIX LLC · PI KHANNA, MAY, PATEK, MARCEL · 2021 to 2021
$450k
NHLBI NIH HHS R00 HL128906NIA NIH HHS R41 AG069606
6 · The paper itself

Abstract

Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A > C mutation in EXOSC3 and a family matched control from the probands unaffected mother. Each iPSC line presents with normal morphology and karyotype and express high levels of pluripotent markers. UAZTi009-A and UAZTi011-A are capable of directed differentiation and can be used as a vital experimental tool to study the development of PCH1B.

Indexed as

Exosome Multienzyme Ribonuclease ComplexRNA-Binding ProteinsCell LineCerebellar DiseasesHumansInduced Pluripotent Stem CellsMutationEXOSC3 protein, humanExosome Multienzyme Ribonuclease ComplexRNA-Binding Proteins

Identifiers

PMID36257093
PMCPMC9729447
OpenAlexW4305040152

What OpenQuestion 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 OpenQuestion graph.