Evidence map›Paper›PMID 36989619›Full record

ArticleStem cell research2023

Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers.

Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Véronique Pingault, Sandrine Marlin, Anne H Monsoro-Burq

Open access · goldAbstract read
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 98% 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

7 authors at 2 institutions in 1 country.

Mansour AlkobtawiUniversité Paris-Saclay, CNRS UMR 3347, INSERM U1021, 91405 Orsay, France; Institut Curie Research Division, PSL Research University, rue Henri Becquerel, 91405 Orsay, France.
Patrick PlaUniversité Paris-Saclay, CNRS UMR 3347, INSERM U1021, 91405 Orsay, France; Institut Curie Research Division, PSL Research University, rue Henri Becquerel, 91405 Orsay, France.
Brigitte OntenientePhenocell SAS, 45 Boulevard Marcel Pagnol, 06130 Grasse, France.
Subham SealUniversité Paris-Saclay, CNRS UMR 3347, INSERM U1021, 91405 Orsay, France; Institut Curie Research Division, PSL Research University, rue Henri Becquerel, 91405 Orsay, France.
Véronique PingaultUniversité de Paris, INSERM, Imagine Institute, UMR 1163, Laboratory of Embryology and Genetics of Human Malformation, F-75015 Paris, France; Fédération de Génétique, Service de Génétique des Maladies rares, AP-HP, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, F-75015 Paris, France.
Sandrine MarlinUniversité de Paris, INSERM, Imagine Institute, UMR 1163, Laboratory of Embryology and Genetics of Human Malformation, F-75015 Paris, France; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, UF Développement Morphogenèse, Centre de référence des surdités génétiques, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.
Anne H Monsoro-BurqUniversité Paris-Saclay, CNRS UMR 3347, INSERM U1021, 91405 Orsay, France; Institut Curie Research Division, PSL Research University, rue Henri Becquerel, 91405 Orsay, France; Institut Universitaire de France, 75005 Paris, France. Electronic address: anne-helene.monsoro-burq@curie.fr.
Centre National de la Recherche Scientifique · FRHôpital Necker-Enfants Malades · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-A and PCli031-A) from two patients from the same family both carrying the same heterozygous deletion in PAX3 exon 1 (c.-70_85 + 366del). These cells are pluripotent as they can differentiate into ectoderm, mesoderm and endoderm. They also can activate the early neural crest marker SNAI2. These cells will be useful for studying the human neural crest-derived pigment cells.

Indexed as

Induced Pluripotent Stem CellsWaardenburg SyndromeHumansMutationNeural CrestPAX3 Transcription FactorPAX3 Transcription Factor

Identifiers

PMID36989619
PMCPMC10240564
OpenAlexW4328098530

What Socratic 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 Socratic graph.