Ontology highlight
ABSTRACT:
SUBMITTER: Tucker BA
PROVIDER: S-EPMC3755341 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Tucker Budd A BA Mullins Robert F RF Streb Luan M LM Anfinson Kristin K Eyestone Mari E ME Kaalberg Emily E Riker Megan J MJ Drack Arlene V AV Braun Terry A TA Stone Edwin M EM
eLife 20130827
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 expressed photoreceptor markers and exhibited axonemes and basal bodies characteristic ...[more]