Abstract : We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was homozygous for the most prevalent variant reported in the USH2A gene, c.2299delG localized in exon 13. Reprogramming was performed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail under feeder-free culture conditions. This iPSC line will be an invaluable tool for studying the pathophysiology of USH2 and for testing the efficacy of novel treatments.
https://hal.umontpellier.fr/hal-02307062
Contributeur : Amandine Michel-Avella
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Soumis le : mardi 8 octobre 2019 - 11:21:10
Dernière modification le : jeudi 10 octobre 2019 - 14:25:44
Carla Sanjurjo-Soriano, Nejla Erkilic, Gael Manes, Grégor Dubois, Christian Hamel, et al.. Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. Stem cell research, Elsevier, 2018, 33, pp.247-250. ⟨10.1016/j.scr.2018.11.007⟩. ⟨hal-02307062⟩