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Imagine Institute,
iPSC Core Facility,
INSERM UMR U1163,
Imagine Institute, iPSC Core Facility, INSERM UMR U1163
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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.
Stem cell research 07, 2020 | Pubmed ID: 32585588
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Stem cell research 10, 2020 | Pubmed ID: 32795927
Generation of two induced pluripotent stem cell lines IMAGINi004-A and IMAGINi005-A from healthy donors.
Stem cell research 10, 2020 | Pubmed ID: 32866896
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Nature communications 11, 2020 | Pubmed ID: 33257696
Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation.
Stem cell research Dec, 2020 | Pubmed ID: 33340797
Université de paris
Université de Paris
Lucile Boutaud*,1,
Marie Michael*,1,
Céline Banal2,
Damelys Calderon1,
Sarah Farcy1,
Julie Pernelle1,
Nicolas Goudin3,
Camille Maillard1,
Clémantine Dimartino1,
Cécile Deleschaux1,
Sébastien Dupichaud4,
Corinne Lebreton1,
Sophie Saunier1,
Tania Attié-Bitach1,5,
Nadia Bahi-Buisson1,6,
Nathalie Lefort2,
Sophie Thomas1
1Imagine Institute, INSERM UMR 1163, Université de Paris,
2Imagine Institute, iPSC Core Facility, INSERM UMR U1163, Université de Paris,
3, Necker Bio-image Analysis platform of the SFR Necker,
4Imagine Institute, Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, INSERM UMR U1163, Université de Paris,
5Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris,
6Pediatric Neurology, APHP- Necker Enfants Malades Hospital
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