Evidence map›Paper›PMID 41795546›Full record

ArticleStem cell research2026

Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.

Vukasin M Jovanovic, Catherine Z Chen, Camilo Toro, Kerstin A Hurd, Jizhong Zou, Cynthia J Tifft, Wei Zheng, Mark J Henderson, Juan Marugan, Carlos A Tristan

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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

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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

10 authors.

Vukasin M JovanovicNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States.
Catherine Z ChenNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States.
Camilo ToroNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Kerstin A HurdNational Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.
Jizhong ZouNational Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.
Cynthia J TifftNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Wei ZhengNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States.
Mark J HendersonNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States.
Juan MaruganNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States.
Carlos A TristanNational Center for Advancing Translational Sciences, Division of Preclinical Innovation, National Institutes of Health, Rockville, MD, United States. Electronic address: carlos.tristan@nih.gov.

Funding

Stem Cell Translation Laboratory (SCTL)ZIATR000244 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI TRISTAN, CARLOS · 2015 to 2024
$58.3M
Intramural NIH HHS ZIA TR000244
6 · The paper itself

Abstract

Tay-Sachs and Sandhoff diseases, are sphingolipidoses caused by rare genetic mutations in the HEXA and HEXB genes, that encode the alpha and beta subunits of lysosomal hexosaminidase, respectively. Here, we report the generation and characterization of three Tay-Sachs and one Sandhoff iPSC lines derived from patients with late-onset disease carrying mutations at the HEXA or HEXB gene. The Tay-Sachs patients carried either homozygous or complex heterozygous mutations in the HEXA gene. The Sandhoff patient carried a heterozygous mutation in the HEXB gene. These four iPSC lines will serve as a valuable resource for the development of in vitro lysosomal storage disease models and therapeutic drug development.

Indexed as

Induced Pluripotent Stem CellsSandhoff DiseaseTay-Sachs Diseasebeta-Hexosaminidase alpha ChainCell LineFemaleHumansMaleMutationbeta-Hexosaminidase alpha ChainHEXA protein, human

Identifiers

PMID41795546
PMCPMC13237807

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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.