Evidence map›Paper›PMID 41865460›Full record

ArticleStem cell research2026

Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.

Pouiré Yameogo, Brandon J Gerhart, Monica F Sentmanat, Amber Neilson, Xiaoxia Cui, Mayank Verma, David R Lynch, Jill S Napierala, Marek Napierala

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.

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

9 authors.

Pouiré YameogoDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA.
Brandon J GerhartDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA.
Monica F SentmanatGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63108, USA.
Amber NeilsonGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63108, USA.
Xiaoxia CuiGenome Engineering & Stem Cell Center (GESC@MGI), Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63108, USA.
Mayank VermaDepartment of Pediatrics, Division of Pediatric Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA.
David R LynchDepartment of Pediatrics and Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jill S NapieralaDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA.
Marek NapieralaDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA. Electronic address: Marek.Napierala@UTSouthwestern.edu.

Funding

GAA REPEATS INDUCED EPIGENETIC SILENCING IN FRIEDREICH'S ATAXIAR01NS081366 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI NAPIERALA, MAREK · 2012 to 2021
$3.7M
Defining the impact of Frataxin point mutations on Friedreich's ataxia pathogenesisR01NS121038 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI NAPIERALA, MAREK · 2021 to 2025
$2.0M
NINDS NIH HHS R01 NS081366NINDS NIH HHS R01 NS121038
6 · The paper itself

Abstract

Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disease caused by biallelic expansion of GAA repeats in intron 1 of the frataxin gene (FXN). While ∼96% of FRDA patients carry expanded GAA repeats on both FXN alleles, ∼4% are compound heterozygous with expanded GAA repeats on one allele and another mutation on the second allele. We generated induced pluripotent stem cells from blood lymphocytes from a FRDA patient carrying the FXN c.165 + 5G > C point mutation, which interferes with canonical splicing of intron 1 of the FXN gene. These cells allow for development of therapeutic approaches that target splicing defect in FRDA.

Indexed as

Friedreich AtaxiaInduced Pluripotent Stem CellsIron-Binding ProteinsRNA SplicingFrataxinHumansIntronsMutationFrataxinIron-Binding Proteins

Identifiers

PMID41865460
PMCPMC13338934

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.