Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

Abstract : We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cells were pluripotent and genetically stable. This iPSC line will be an important tool for studying the pathogenesis of these USH2A mutations and for developing treatments that, due their high prevalence, will target a large patient population.
Liste complète des métadonnées

https://hal.umontpellier.fr/hal-02310858
Contributeur : Amandine Michel-Avella <>
Soumis le : jeudi 10 octobre 2019 - 14:51:29
Dernière modification le : vendredi 15 mai 2020 - 12:22:08

Lien texte intégral

Identifiants

Collections

Citation

Carla Sanjurjo-Soriano, Nejla Erkilic, Gael Manes, Grégor Dubois, Christian Hamel, et al.. Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa. Stem cell research, Elsevier, 2018, 33, pp.228-232. ⟨10.1016/j.scr.2018.11.004⟩. ⟨hal-02310858⟩

Partager

Métriques

Consultations de la notice

62