Evidence map›Paper›PMID 40106038›Full record

ArticleHuman cell2025

Generation of iPSCs line from patient with Singleton-Merten syndrome.

Anna Belyaeva, Kseniya Perepelina, Evdokia Kuznetsova, Daria Smirnova, Tatyana Yakovleva, Victoria Turilova, Irina Neganova, Alla Shatrova, Yuliya Fomicheva, Olga Peregudina and 3 more

Abstract read
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In one paragraph

Article in Human cell, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
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

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

1 citing paper in PubMed.

  1. Article
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

13 authors.

Anna BelyaevaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia. anna.belyaeva97@mail.ru.ORCID http://orcid.org/0000-0002-8816-1065
Kseniya PerepelinaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.ORCID http://orcid.org/0000-0003-0309-421X
Evdokia KuznetsovaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.ORCID http://orcid.org/0009-0005-6174-5318
Daria SmirnovaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.
Tatyana YakovlevaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.
Victoria TurilovaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.
Irina NeganovaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.ORCID http://orcid.org/0000-0001-5712-2170
Alla ShatrovaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.
Yuliya FomichevaAlmazov National Medical Research Centre, Saint-Petersburg, 197341, Russia.
Olga PeregudinaAlmazov National Medical Research Centre, Saint-Petersburg, 197341, Russia.ORCID http://orcid.org/0000-0002-2761-7209
Elena VasichkinaAlmazov National Medical Research Centre, Saint-Petersburg, 197341, Russia.ORCID http://orcid.org/0000-0001-7336-4102
Anna KostarevaAlmazov National Medical Research Centre, Saint-Petersburg, 197341, Russia.ORCID http://orcid.org/0000-0002-9349-6257
Anna MalashichevaInstitute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.ORCID http://orcid.org/0000-0002-0820-2913

Funding

Ministry of Science and Higher Education of the Russian Federation 075-15-2022-301
6 · The paper itself

Abstract

Singleton-Merten syndrome (SMS) is a rare genetic condition associated with abnormal calcification and skeletal anomalies. To explore the underlying mechanisms of this disorder, we generated induced pluripotent stem cells (iPSCs) from the blood cells of a patient with SMS. The iPSCs retain the genetic mutation linked to the syndrome, making them a relevant model for studying disease-specific processes. These cells display all key features of pluripotent stem cells, including the expression of characteristic markers, the ability to differentiate into cell types from all three germ layers, and stable growth during passaging. These iPSCs provide a valuable tool for investigating the processes involved in SMS, particularly those leading to abnormal calcification. They also offer a platform for testing potential therapeutic strategies aimed at addressing SMS-related complications. Future work will focus on directing these cells into specific cell types to better understand the pathways involved in the disease and identify possible treatment targets. This study highlights the potential of patient-derived iPSCs for advancing research into rare genetic disorders.

Indexed as

CalcinosisInduced Pluripotent Stem CellsCell DifferentiationCell LineCells, CulturedHumansMutationSyndromeInduced pluripotent stem cellsPathological calcificationReprogramingSingleton-Merten syndrome

Identifiers

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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.