Article
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.
eLife - 27 Aug 2013
Tucker Budd A, Mullins Robert F, Streb Luan M, Anfinson Kristin, Eyestone Mari E, Kaalberg Emily, Riker Megan J, Drack Arlene V, Braun Terry A, Stone Edwin M
Abstract excerpt
Next-generation and Sanger sequencing were combined to identify disease-causing USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem cells (iPSCs), generated from the patient's keratinocytes, were differentiated into multi-layer eyecup-like structures with features of human retinal precursor cells. The inner layer of the eyecups contained photoreceptor precursor cells that...
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