Evidence map›Paper›PMID 41723941›Full record

ArticleStem cell research2026

Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onset.

Norman N Liu, Ruiqi Hu, Samuel J Hubbard, Sophia E Salemi, Erdene Baljinnyam, Priya Pradhan, Genevieve Smith, Bryn D Webb, Samuele G Marro

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.

Norman N LiuDivision of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.
Ruiqi HuInstitute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Samuel J HubbardDivision of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.
Sophia E SalemiDivision of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.
Erdene BaljinnyamInstitute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Priya PradhanInstitute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Genevieve SmithInstitute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bryn D WebbDivision of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: bdwebb@wisc.edu.
Samuele G MarroInstitute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: samuele.marro@mssm.edu.

Funding

Role of POU4F1 in a Novel Form of AtaxiaR21NS130319 · NINDS · UNIVERSITY OF WISCONSIN-MADISON · PI MARRO, SAMUELE G., WEBB, BRYN D · 2023 to 2024
$464k
NINDS NIH HHS R21 NS130319
6 · The paper itself

Abstract

We have described a novel neurodevelopmental disorder caused by de novo, heterozygous pathogenic variants in the Pou domain, class 4, transcription factor 1 (POU4F1), now termed ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS). This study reports the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells of a patient with ATITHS. The resulting iPSC line, ISMMSi061-A, harbors the POU4F1 heterozygous variant c.271_281del;p.(Thr91Hisfs*254). The iPSCs display normal cell morphology, expression of pluripotency markers, normal karyotype, and the ability to differentiate into all three germ layers.

Indexed as

AtaxiaInduced Pluripotent Stem CellsMuscle HypotoniaTremorCell DifferentiationCell LineFemaleHumansMaleSyndromeAtaxia intention tremor and hypotonia syndrome childhood onsetATITHSBRN3AClass IV POU domain-containing transcription factorPOU4F1

Identifiers

PMID41723941
PMCPMC13091698

What Socratic holds

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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 Socratic graph.