Evidence map›Paper›PMID 39966349›Full record

ArticleNature communications2025

iPSCs and iPSC-derived cells as a model of human genetic and epigenetic variation.

Kara Quaid, Xiaoyun Xing, Yi-Hsien Chen, Yong Miao, Amber Neilson, Vijayalingam Selvamani, Aaron Tran, Xiaoxia Cui, Ming Hu, Ting Wang

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

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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

10 authors.

Kara QuaidCenter for Genome Sciences & Systems Biology, Washington University in St. Louis, St. Louis, MO, USA.ORCID http://orcid.org/0000-0002-4725-322X
Xiaoyun XingCenter for Genome Sciences & Systems Biology, Washington University in St. Louis, St. Louis, MO, USA.ORCID http://orcid.org/0000-0002-1045-1775
Yi-Hsien ChenGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Yong MiaoGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Amber NeilsonGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Vijayalingam SelvamaniGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Aaron TranCenter for Genome Sciences & Systems Biology, Washington University in St. Louis, St. Louis, MO, USA.
Xiaoxia CuiGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. x.cui@wustl.edu.ORCID http://orcid.org/0000-0002-3073-7332
Ming HuDepartment of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA. hum@ccf.org.ORCID http://orcid.org/0000-0003-0987-2916
Ting WangCenter for Genome Sciences & Systems Biology, Washington University in St. Louis, St. Louis, MO, USA. twang@wustl.edu.ORCID http://orcid.org/0000-0002-6800-242X

Funding

The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9M
WashU-Northwestern Genomic Variation and Function Data and Administrative Coordinating CenterU24HG012070 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang, Feng Yue · 2021 to 2026
$9.7M
INSTITUTIONAL TRAINING GRANT IN GENOMIC SCIENCET32HG000045 · NHGRI · WASHINGTON UNIVERSITY · PI MICHAEL R BRENT, Barak A Cohen · 1997 to 2026
$8.4M
DECODING THE IMPACT OF TRANSPOSABLE ELEMENTS ON GENE REGULATIONR01HG007175 · NHGRI · WASHINGTON UNIVERSITY · PI WANG, TING · 2014 to 2021
$2.7M
Model-based methods for single cell chromatin interactomic dataR35HG011922 · NHGRI · CLEVELAND CLINIC LERNER COM-CWRU · PI HU, MING · 2021 to 2025
$2.4M
NHGRI NIH HHS R01 HG007175NHGRI NIH HHS R35 HG011922NHGRI NIH HHS T32 HG000045NHGRI NIH HHS U24 HG012070NHGRI NIH HHS U41 HG010972U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG007175U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R35HG011922U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) T32HG000045-18U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U24HG012070U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U41HG010972
6 · The paper itself

Abstract

Understanding the interaction between genetic and epigenetic variation remains a challenge due to confounding environmental factors. We propose that human induced Pluripotent Stem Cells (iPSCs) are an excellent model to study the relationship between genetic and epigenetic variation while controlling for environmental factors. In this study, we have created a comprehensive resource of high-quality genomic, epigenomic, and transcriptomic data from iPSC lines and three iPSC-derived cell types (neural stem cell (NSC), motor neuron, monocyte) from three healthy donors. We find that epigenetic variation is most strongly associated with genetic variation at the iPSC stage, and that relationship weakens as epigenetic variation increases in differentiated cells. Additionally, cell type is a stronger source of epigenetic variation than genetic variation. Further, we elucidate a utility of studying epigenetic variation in iPSCs and their derivatives for identifying important loci for GWAS studies and the cell types in which they may be acting.

Indexed as

Epigenesis, GeneticGenetic VariationInduced Pluripotent Stem CellsCell DifferentiationCell LineEpigenomicsGenome-Wide Association StudyHumansMonocytesMotor NeuronsNeural Stem CellsTranscriptome

Identifiers

PMID39966349
PMCPMC11836351

What OpenQuestion holds

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Registered trials

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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.