Evidence map›Paper›PMID 36966641›Full record

ArticleStem cell research2023

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).

Pauline De Kinderen, Laura Rabaut, Melanie H A M Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A N Meester, Aline Verstraeten

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PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2023. 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, top 97% of its field
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, 0 citations in OpenAlex.

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

9 authors at 3 institutions in 2 countries.

Pauline De KinderenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Laura RabautCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Melanie H A M PerikCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Silke PeetersCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Peter PonsaertsLaboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, Belgium.
Bart LoeysCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Geert MortierCenter of Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
Josephina A N MeesterCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Aline VerstraetenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: Aline.Verstraeten@uantwerpen.be.
University of Antwerp · BEKU Leuven · BERadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature, degenerative joint disease, hearing impairment, orofacial anomalies and ocular manifestations. To study and therapeutically target the underlying disease mechanisms, human iPSC-chondrocytes are considered highly suitable as they have been shown to exhibit several key features of skeletal dysplasias. Prior to creating iPSC-chondrocytes, peripheral blood mononuclear cells of two male SEDC patients, carrying the p.Gly1107Arg and p.Gly408Asp pathogenic variants, respectively, were successfully reprogrammed into iPSCs using the CytoTune™-iPS 2.0 Sendai Kit (Invitrogen).

Indexed as

Induced Pluripotent Stem CellsOsteochondrodysplasiasCollagen Type IIHumansLeukocytes, MononuclearMaleCollagen Type II

Identifiers

PMID36966641
PMCPMC10240565
OpenAlexW4328102515

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.