Evidence map›Paper›PMID 40766356›Full record

ArticlebioRxiv : the preprint server for biology2025

A stem cell-based platform for functional analysis of genetic variants in lung disease.

Daniel J Wallman, Sachiko T Homma, Madeleine Finton, MaryLou Beermann, Anjali Jacob, Semil P Choksi, Steven D Pletcher, Huihui Xu, Pushpinder Singh Bawa, Jeremy F Reiter and 4 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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
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.

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

14 authors.

Daniel J WallmanCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.ORCID 0000-0002-5732-0801
Sachiko T HommaCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.ORCID 0000-0001-6563-8521
Madeleine FintonCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.
MaryLou BeermannCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.
Anjali JacobUCSF Pulmonary, Critical Care, Allergy and Sleep Medicine, University of California at San Fracisco, San Francisco, CA, 94143.ORCID 0000-0003-1143-4608
Semil P ChoksiDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, CA 94158, USA.ORCID 0000-0002-9319-7230
Steven D PletcherDepartment of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, California.ORCID 0000-0003-0127-927X
Huihui XuDepartment of Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Pushpinder Singh BawaCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.ORCID 0000-0002-8370-3638
Jeremy F ReiterDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, CA 94158, USA.ORCID 0000-0002-6512-320X
Amjad HoraniDepartment of Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-5352-1948
Steven L BrodyDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-0905-7527
Andrew BericalCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.ORCID 0000-0002-0818-0259
Finn J HawkinsCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.ORCID 0000-0002-2246-6448

Funding

Patient-specific iPSCs to model and treat the inception of pulmonary fibrosisP01HL170952 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ANDREW A WILSON · 2024 to 2026
$11.4M
Hedgehog signaling at the cell's antenna: Smoothened and the primary ciliumR01AR054396 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Jeremy F Reiter · 2007 to 2026
$9.0M
REGULATION OF MOTILE CILIA ASSEMBLY IN LUNG DISEASER01HL128370 · NHLBI · WASHINGTON UNIVERSITY · PI Steven Brody, SUSAN K DUTCHER · 2015 to 2026
$6.9M
A National iPS Cell Network with Deep Phenotyping for Translational ResearchU01TR001810 · NCATS · BOSTON UNIVERSITY MEDICAL CAMPUS · PI GILAD, YOAV, KOTTON, DARRELL N. · 2016 to 2020
$4.4M
NATIONAL BIOREPOSITORY OF LUNG DISEASE-SPECIFIC HUMAN INDUCED PLURIPOTENT STEM CELLS:THE PURPOSE OF THIS RESOURCE IS TO BUILD AND SUPPORT A CRITICAL75N92020C00005 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI N/A, N/A · 2021 to 2024
$2.6M
iPSC-Derived Airway Basal Cells to Model Human Airway Development and DiseaseR01HL139799 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI HAWKINS, FINN · 2018 to 2022
$2.1M
NCATS NIH HHS U01 TR001810NHLBI NIH HHS 75N92020C00005NHLBI NIH HHS P01 HL170952NHLBI NIH HHS R01 HL128370NHLBI NIH HHS R01 HL139799NIAMS NIH HHS R01 AR054396
6 · The paper itself

Abstract

Advances in genetic and transcriptomic technologies have identified large numbers of genes and variants of potential importance to human disease. Determining the function of these genes and variants is a critical bottleneck in understanding disease etiology. Variants of uncertain significance (VUS) are highly prevalent in our genomes, but our ability to identify them significantly outpaces our ability to determine their molecular and clinical consequences. We developed a genetically tractable induced pluripotent stem cell (iPSC) based platform to investigate gene variant pathogenicity in lung disease, using primary ciliary dyskinesia (PCD) as a model. We identified an individual with a clinical diagnosis of PCD and a VUS in the gene

Identifiers

PMID40766356
PMCPMC12324314

What OpenQuestion holds

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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.