Evidence map›Paper›PMID 41898822›Full record

ArticleGenes2026

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the

Beatriz Monteiro, Maria Inês Peixoto, Juan Darío Ortigoza-Escobar, Mariana Alves, Ana Catarina Sandiares, Mariana Gonçalves, Luciana Vaz Moreira, Maria Francisca Coutinho, Liliana Matos, Sandra Alves and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

11 authors.

Beatriz MonteiroResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0009-0000-1961-5599
Maria Inês PeixotoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.
Juan Darío Ortigoza-EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, 08950 Barcelona, Spain.ORCID 0000-0002-6320-2641
Mariana AlvesInstitute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, 3810-193 Aveiro, Portugal.ORCID 0000-0003-1935-192X
Ana Catarina SandiaresResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0009-0004-3276-060X
Mariana GonçalvesResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0000-0002-3111-4612
Luciana Vaz MoreiraResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.
Maria Francisca CoutinhoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0000-0002-2222-3622
Liliana MatosResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.
Sandra AlvesResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0000-0002-8881-9197
Marisa EncarnaçãoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.ORCID 0000-0002-3726-2851

Funding

Centro de Estudos de Ciencia Animal UIDB/00211/2020
6 · The paper itself

Abstract

backgroundNiemann-Pick type C is a lysosomal storage disorder that results from pathogenic variants in the

objectivesTo get insights into the pathogenicity of a novel variant in NPC1, p.Cys800Ser, we created stable cell lines expressing this variant, in parallel with cell lines expressing the NPC1 wild-type and NPC1 pathogenic variants.

methodsWe leveraged an isogenic cell line in which the

resultsWe observed in the stable cell line expressing NPC1 p.Cys800Ser that the mutated NPC1 protein is transported to the lysosome similarly to the p.Pro1007Ala variant and affects lysosomal distribution.

conclusionsUsing this approach, we could analyze the pathogenicity of each variant separately and these cell lines could be used for personalized medicine-based approaches and multi-omic studies.

Indexed as

Intracellular Signaling Peptides and ProteinsNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CCell LineHumansLysosomesMutation, MissenseIntracellular Signaling Peptides and ProteinsNiemann-Pick C1 ProteinNPC1 protein, humancellular modelfunctional characterizationlysosomal storage diseasesNiemann–Pick disease type Cvariants of unknown significance

Identifiers

PMID41898822
PMCPMC13025297

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.