Institut des Cellules souches pour le traitement et l'étude des maladies monogéniques (I-STEM)

Laboratory presentation

I-Stem is the largest French laboratory for research and development dedicated to human pluripotent stem cells, of embryonic origin or obtained by reprogramming gene. The specific vocation of I-Stem is to explore all the therapeutic potential of human pluripotent stem cells for applications in patients affected by rare diseases of genetic origin. In this context, our teams are developing two major areas of research. The first one is cell therapy, which aims to replace lost or diseased cells to other cells with the same characteristics, produced in the laboratory from pluripotent stem cells. The second area is pharmacology based on automated screening of large libraries of compounds with therapeutic potential, following modeling of molecular mechanisms associated with diseases, as revealed by the study of pluripotent stem cells from affected donors. I-Stem teams are currently working on a dozen genetic diseases that affect different organs. The Institute also hosts every year many researchers interested in other diseases and provides training and technology support.

The 20 latest publications

Title Authors Publication date Source
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III Lucille Rossiaud, Xavier Nissan, Lucile Hoch 01/16/24 Journal of Clinical Investigation
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments Cécile Martinat 12/01/23 Nature Communications
Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome Xavier Nissan 12/01/23 Aging Cell
Semi-automated optimized method to isolate CRISPR/Cas9 edited human pluripotent stem cell clones Elie Frank, Michel Cailleret, Pascal Fragner, Jérôme Polentes, Elise Herardot, Lina El Kassar, Karine Giraud-Triboult, Christelle Monville, Karim Ben M’Barek 12/01/23 Stem Cell Research and Therapy
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ Laurine Merriadec, Florine Roussange, Cécile Martinat 11/01/23 International Journal of Molecular Sciences
Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9 Laure Chatrousse, Thifaine Poullion, Lina El Kassar, Karine Giraud-Triboult, Claire Boissart, Alexandra Benchoua 10/01/23 Stem Cell Research
Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III Lucille Rossiaud, Emilie Pellier, Manon Benabides, Xavier Nissan, Lucile Hoch 10/01/23 Stem Cell Research
Unlocking the Complexity of Neuromuscular Diseases: Insights from Human Pluripotent Stem Cell-Derived Neuromuscular Junctions Morgan Gazzola, Cécile Martinat 10/01/23 International Journal of Molecular Sciences
CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease Claire Boissart, Laure Chatrousse, Thifaine Poullion, Lina El Kassar, Karine Giraud-Triboult, Alexandra Benchoua 09/01/23 Stem Cell Research
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome Axel Sciauvaud, Sandra Pourtoy-Brasselet, Margot Jarrige, Hélène Polvèche, Laetitia Aubry 05/09/23 Stem Cell Reports
Generating Functional and Highly Proliferative Melanocytes Derived from Human Pluripotent Stem Cells: A Promising Tool for Biotherapeutic Approaches to Treat Skin Pigmentation Disorders Manoubia Saidani, Annabelle Darle, Margot Jarrige, Hélène Polvèche, Lina El Kassar, Nathalie Holic, Cécile Martinat, Christine Baldeschi, Jennifer Allouche 04/01/23 International Journal of Molecular Sciences
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4 Julien Come, Cécile Martinat 03/02/23 American Journal of Human Genetics
Photoreceptor Cell Replacement Using Pluripotent Stem Cells: Current Knowledge and Remaining Questions Christelle Monville, Karim Ben M’Barek 02/01/23 Cold Spring Harbor perspectives in medicine
MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1 Julie Tahraoui-Bories, Antoine Mérien, Céline Leteur, Hélène Polvèche, Alexandre Carteron, Jérôme Polentes, Margot Jarrige, Cécile Martinat 02/01/23 Neuropathology and Applied Neurobiology
Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1 Noémie Bérenger-Currias, Cécile Martinat, Sandrine Baghdoyan 02/01/23 Cells
Propagation of Distinct α-Synuclein Strains Within Human Reconstructed Neuronal Network and Associated Neuronal Dysfunctions Simona Gribaudo, Anselme L. Perrier 01/01/23 Methods in molecular biology (Clifton, N.J.)
SplicingLore: A web resource for studying the regulation of cassette exons by human splicing factors Hélène Polvèche 01/01/23 Database : the journal of biological databases and curation
Identification of signaling pathways modifying human dopaminergic neuron development using a pluripotent stem cell-based high-throughput screening automated system: purinergic pathways as a proof-of-principle Claire Boissart, Marie Lasbareilles, Johana Tournois, Laure Chatrousse, Thifaine Poullion, Alexandra Benchoua 01/01/23 Frontiers in Pharmacology
Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes Hélène Polvèche, Julie Tahraoui-Boris, Cécile Martinat 12/01/22 Nature Communications
Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes (Nature Communications, (2022), 13, 1, (3841), 10.1038/s41467-022-31594-9) Hélène Polvèche, Julie Tahraoui-Bories, Cécile Martinat 12/01/22 Nature Communications

Number of publications of the laboratory by scientific field (2016-2021)

Every paper can be classified in one or more scientific fields. The figure below shows the lab's number of publications in each scientific field, according to the ASJC classification (Elsevier)