Evidence map›Paper›PMID 42612424›Full record

ArticleStem cell research2026

Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders.

Cidi Chen, Wardiya Afshar-Saber, Isabela Iglesias, Kristina Kim, Becca Lewis, Gayathri Srinivasan, Celeste Chen, Remi Hirsh, Ryan Guardado, Taryn Polanco and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

23 authors.

Cidi ChenHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Wardiya Afshar-SaberRosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Isabela IglesiasHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Kristina KimHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Becca LewisHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Gayathri SrinivasanHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Celeste ChenHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Remi HirshHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Ryan GuardadoHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Taryn PolancoHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Amanda SwansonHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Erika NorabuenaHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Dosh WhyeHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Ashish JainResearch Informatics, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.
Chunhui CaiResearch Informatics, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.
Liang SunResearch Informatics, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.
Maya ChopraRosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Ivy ChenHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA.
Grazia IannelloHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
Brian RozumnyNeurodevelopmental Disorders Developmental Program, Division of Developmental Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
Ellen HansonNeurodevelopmental Disorders Developmental Program, Division of Developmental Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
Mustafa SahinHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Elizabeth D ButtermoreHuman Neuron Core, Boston Children's Hospital, MA 02115, USA; Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: elizabeth.buttermore@childrens.harvard.edu.

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI MUSTAFA SAHIN · 2014 to 2026
$20.1M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
NICHD NIH HHS P50 HD105351NINDS NIH HHS U54 NS092090
6 · The paper itself

Abstract

In this manuscript, we report the development of a comprehensive resource designed to harness the transformative potential of patient-derived induced pluripotent stem cells (iPSCs) to advance the study of neurodevelopmental disorders (NDDs). Using CRISPR-Cas-mediated genome editing, the Human Neuron Core generated a repository comprising 29 isogenic iPSC pairs, two sex-matched parental control iPSC pairs, and one unmatched patient line representing six monogenic NDDs: Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, KCNQ2 Developmental and Epileptic Encephalopathy, FOXG1 Syndrome, Phelan-McDermid Syndrome, and SETBP1 Haploinsufficiency Disorder. In parallel, detailed clinical phenotyping data were collected to enable comparison of cellular phenotypes with clinical severity in future studies. This integrated collection of genetically defined iPSC lines and associated clinical data provides a powerful platform for investigating disease mechanisms and advancing iPSC-based drug discovery for NDDs.

Indexed as

Induced Pluripotent Stem CellsNeurodevelopmental DisordersCRISPR-Cas SystemsFemaleHumansMalePhenotypeCRISPR-CAS9Gene editingHuman induced pluripotent stem cellsNeurodevelopmental disorders

Identifiers

PMID42612424
PMCPMC13659736

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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.