Evidence map›Paper›PMID 40738073›Full record

ArticleStem cell research2025

Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant.

Zhiyu Li, Sairah Yousaf, Bin Guan, Amelia Naik, Rafael Villasmil, Raymond S Oh, Gene Liau, Temesgen D Fufa, Laryssa A Huryn, Robert B Hufnagel

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 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
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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

10 authors.

Zhiyu LiOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Sairah YousafOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Amelia NaikOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Rafael VillasmilFlow Cytometry Core, National Eye Institute, Bethesda, MD, USA.
Raymond S OhStoke Therapeutics, Bedford, MA, USA.
Gene LiauPreclinical Development, Torque Bio, Durham NC, USA.
Temesgen D FufaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Robert B HufnagelHawaii Permanente Medical Group, Kaiser Permanente, Mapunapuna Medical Office, USA. Electronic address: Robert.B.Hufnagel@kp.org.

Funding

Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Intramural NIH HHS ZIA EY000564
6 · The paper itself

Abstract

We have generated four human iPSC lines from skin biopsy-derived fibroblast cells with pathogenic variants in OPA1. Donors have a clinical diagnosis of optic atrophy. Three harbor heterozygous presumed loss-of-function (pLOF) variants, c.1608 + 1_1608 + 6delGTGAGG; c.2873_2876delTTAG; and c.635_636delAA; one patient is compound heterozygous for a nonsense allele c.676C>T p. (Gln226Ter) and a missense modifier allele c.1146A>G p.(Ile382Met). All iPSC lines were reprogrammed using non-integrating Sendai virus techniques and validated with undifferentiated hPSC state markers at RNA and protein level. OPA1 iPSC lines differentiate into retinal ganglion-like cells, providing a useful platform to study pathogenesis and development of cell-based drug screens.

Indexed as

GTP PhosphohydrolasesInduced Pluripotent Stem CellsOptic AtrophyCell DifferentiationCell LineFemaleHumansMaleGTP PhosphohydrolasesOPA1 protein, humanInduced pluripotent stem cellsOPA1 diseaseVariants

Identifiers

PMID40738073
PMCPMC12456368

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.