Evidence map›Paper›PMID 41187745›Full record

ArticleCell stem cell2025

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.

Lu Wang, Yuji Nakamura, Junhao Li, David Sievert, Yang Liu, Toan Nguyen, Prudhvi Sai Jetti, Ethan Thai, Rachel Yibei Zhou, Jiaming Weng and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell stem cell, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
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  3. Review
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  7. Review
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

21 authors.

Lu WangDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA; Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA; Department of Physiology and Neuroscience, University of Southern California, Los Angeles, CA 90033, USA; USC Neuroscience Graduate Program, University of Southern California, Los Angeles, CA 90089, USA. Electronic address: lwang419@usc.edu.
Yuji NakamuraDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Junhao LiDepartment of Cognitive Science, University of California, San Diego, La Jolla, CA 92037, USA.
David SievertDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Yang LiuCenter for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA; Department of Physiology and Neuroscience, University of Southern California, Los Angeles, CA 90033, USA; USC Neuroscience Graduate Program, University of Southern California, Los Angeles, CA 90089, USA.
Toan NguyenDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Prudhvi Sai JettiDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Ethan ThaiCenter for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA; Department of Physiology and Neuroscience, University of Southern California, Los Angeles, CA 90033, USA; USC Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Rachel Yibei ZhouDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Jiaming WengDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA; Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA 92093, USA.
Naomi MeaveDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Manya YadavilliDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Robyn HowarthDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Kevin CameyCenter for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA; Department of Physiology and Neuroscience, University of Southern California, Los Angeles, CA 90033, USA; USC Neuroscience Graduate Program, University of Southern California, Los Angeles, CA 90089, USA.
Niyati BankaDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Charlotte Owusu-HammondDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Chelsea BarrowsDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt.
Eran MukamelDepartment of Cognitive Science, University of California, San Diego, La Jolla, CA 92037, USA.
Joseph G GleesonDepartment of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address: jogleeson@health.ucsd.edu.

Funding

U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0M
Molecular Characterization of Pontocerebellar HypoplasiaR01NS098004 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JOSEPH G GLEESON · 2016 to 2026
$4.6M
Illumina NovaSeq 6000 Sequencing SystemS10OD026929 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JEPSEN, KRISTEN LYNN · 2019 to 2019
$600k
A Phenotypical Brain Organoids for Neurodevelopmental DisordersR00NS125106 · NINDS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Lu Wang · 2025 to 2026
$498k
A Phenotypical Brain Organoids for Neurodevelopmental DisordersK99NS125106 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI WANG, LU · 2022 to 2023
$211k
NIH HHS S10 OD026929NINDS NIH HHS K99 NS125106NINDS NIH HHS P30 NS047101NINDS NIH HHS R00 NS125106NINDS NIH HHS R01 NS098004
6 · The paper itself

Abstract

Thousands of genes are associated with neurodevelopmental disorders (NDDs), yet mechanisms and targeted treatments remain elusive. To fill these gaps, we present a California Institute of Regenerative Medicine (CIRM)-initiated NDD biobank of 352 publicly available genetically diverse patient-derived induced pluripotent stem cells (iPSCs), along with clinical details, brain imaging, and genomic data, representing four major categories of disease: microcephaly (MIC), polymicrogyria (PMG), epilepsy (EPI), and intellectual disability (ID). From 35 representative patients, we studied over 6,000 brain organoids for histology and single-cell transcriptomics. Compared with an organoid library from ten neurotypicals, patients showed distinct cellular defects linked to underlying clinical disease categories. MIC showed defects in cell survival and excessive TTR+ cells, PMG showed intermediate progenitor cell junction defects, EPI showed excessive astrogliosis, and ID showed excessive generation of TTR+ cells. Our organoid atlas demonstrates both conserved and divergent NDD category-specific phenotypes, bridging genotype and phenotype. This NDD iPSC biobank can support future disease modeling and therapeutic approaches.

Indexed as

Biological Specimen BanksBrainNeurodevelopmental DisordersOrganoidsFemaleHumansInduced Pluripotent Stem CellsMalePhenotypebrain organoidsepilepsyintellectual disabilitymicrocephalyneurodevelopmental diseasepolymicrogyriasingle-cell sequencing

Identifiers

PMID41187745
PMCPMC13003759

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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.