Evidence map›Paper›PMID 38759410›Full record

ArticleStem cell research2024

Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing.

Hans B Liu, Tao Dong, Leon Deng, Chengqian Zhou, Fan Tang, Russell L Margolis, Pan P Li

Abstract read
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In one paragraph

Article in Stem cell research, 2024. 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

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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

7 authors.

Hans B LiuDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Tao DongDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Leon DengDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Chengqian ZhouDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Fan TangDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Russell L MargolisDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Pan P LiDepartment of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: ple5@jhmi.edu.

Funding

Molecular Pathogenesis of spinocerebellar ataxia type 12R01NS122756 · NINDS · JOHNS HOPKINS UNIVERSITY · PI Pan Li · 2023 to 2026
$1.9M
Novel knock-in mouse models of spinocerebellar ataxia type 12R21NS112687 · NINDS · JOHNS HOPKINS UNIVERSITY · PI LI, PAN · 2020 to 2020
$450k
NINDS NIH HHS R01 NS122756NINDS NIH HHS R21 NS112687
6 · The paper itself

Abstract

Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding brain-specific regulatory units of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9n genome editing, we have generated a human heterozygous SCA12 iPSC line with 73 triplets for the mutant allele. The heterozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.

Indexed as

Gene EditingHeterozygoteInduced Pluripotent Stem CellsMutationSpinocerebellar AtaxiasCell LineCRISPR-Cas SystemsHumansNerve Tissue ProteinsProtein Phosphatase 2Nerve Tissue ProteinsPPP2R2B protein, humanProtein Phosphatase 2

Identifiers

PMID38759410
PMCPMC11610223

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Registered trials

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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.