Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

Carla Sanjurjo-Soriano; Nejla Erkilic; Gaël Manes; Gregor Dubois; Christian P Hamel; Isabelle Meunier; Vasiliki Kalatzis

doi:10.1016/j.scr.2018.11.007

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

Stem Cell Res. 2018 Dec:33:247-250. doi: 10.1016/j.scr.2018.11.007. Epub 2018 Nov 16.

Authors

Carla Sanjurjo-Soriano¹, Nejla Erkilic¹, Gaël Manes¹, Gregor Dubois¹, Christian P Hamel², Isabelle Meunier², Vasiliki Kalatzis³

Affiliations

¹ Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France.
² Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France; Centre of Reference for Genetic Sensory Diseases, CHU, Montpellier, France.
³ Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address: vasiliki.kalatzis@inserm.fr.

PMID: 30468996
DOI: 10.1016/j.scr.2018.11.007

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Induced Pluripotent Stem Cells / metabolism*
Middle Aged
Usher Syndromes / genetics*

Supplementary concepts

Usher syndrome, type 2A