Evidence map›Paper›PMID 37643495›Full record

ArticleStem cell research2023

Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.

Sohaib K Hashmi, Sabine Schneider, Alyssa L Gagne, Jean Ann Maguire, Sierra Anderson, Paul Gadue, Robert O Heuckeroth, Deborah L French

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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 72% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 1 institution in 1 country.

Sohaib K HashmiDepartment of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Bioengineering, The University of Pennsylvania School of Engineering and Applied Science, 220 S 33rd St, Philadelphia, PA 19104, United States; Department of Internal Medicine, Hospital of the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States.
Sabine SchneiderDepartment of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Neurology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, United States.
Alyssa L GagneCenter for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Jean Ann MaguireCenter for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Sierra AndersonDepartment of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States.
Paul GadueCenter for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Robert O HeuckerothDepartment of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Deborah L FrenchCenter for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: frenchd@email.chop.edu.
Children's Hospital of Philadelphia · US

Funding

Biochemical and cellular mechanisms linking actin mutations to visceral myopathyR01DK128282 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI HEUCKEROTH, ROBERT O · 2021 to 2025
$3.5M
NIDDK NIH HHS R01 DK128282
6 · The paper itself

Abstract

Dysfunction of visceral smooth muscle ("visceral myopathy") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure, poor bladder emptying, and difficult vaginal delivery. The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>T p.R257C/+ mutation. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function.

Indexed as

Embryonic Stem CellsMuscular DiseasesActinsCell LineFemaleHeterozygoteHumansMuscle DevelopmentACTG2 protein, humanActins

Identifiers

PMID37643495
PMCPMC10509821
OpenAlexW4386047523

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.