Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene.

Alexander Rodriguez-Lopez, Xiuli Huang, Catherine Chen, Jizhong Zou, Wei Zheng, Guibin Chen

Abstract read

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. Cited by 1 paper.

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0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.Molecular biology reports · 2025
Article

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5 · Who and what money

Authors and funding

6 authors.

Alexander Rodriguez-LopezNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Xiuli HuangNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Catherine ChenNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Jizhong ZouiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Wei ZhengNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Guibin ChenNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Guibin.chen@nih.gov.

Funding

Drug Repurposing Screening for Rare and Neglected DiseasesZIATR000018 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI ZHENG, WEI · 2015 to 2025

$24.6M

Intramural NIH HHS ZIA TR000018

6 · The paper itself

Abstract

Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers.

Indexed as

AcetylglucosaminidaseCell LineInduced Pluripotent Stem CellsMucopolysaccharidosis IIIMutationHomozygoteHumansMaleAcetylglucosaminidasealpha-N-acetyl-D-glucosaminidase

Identifiers

PMID39579553

DOI10.1016/j.scr.2024.103612

PMCPMC11787772

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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.