期刊
STEM CELL RESEARCH
卷 33, 期 -, 页码 247-250出版社
ELSEVIER
DOI: 10.1016/j.scr.2018.11.007
关键词
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资金
- Aviesan-Unadev
- Vaincre Usher 2
- SOS retinite
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.
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