Ontology highlight
ABSTRACT:
SUBMITTER: Li G
PROVIDER: S-EPMC6749091 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Li Guilan G Gao Guanjie G Wang Panfeng P Song Xiaojing X Xu Ping P Xie Bingbing B Zhou Tiancheng T Pan Guangjin G Peng Fuhua F Zhang Qingjiong Q Ge Jian J Zhong Xiufeng X
Frontiers in molecular neuroscience 20190911
RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified. Their pathogenicity has not been directly clarified due to lack of diseased cells. Here, we generated human-induced pluripotent stem cells (hiPSCs) from one putative LCA patient carrying two novel <i>RPE65</i> mutations with c.200T>G (p.L67R) and c.430T>C (p.Y144H), named RPE65-hiPSCs, which were confirmed to contain the same ...[more]