Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient.

Leber's congenital amaurosis (LCA) is a complex inherited retinal dystrophy characterized by severe vision loss and even blindness early in life, caused by more than 38 genes. Variations in RDH12 were found to be responsible for LCA. We successfully generated two induced pluripotent stem cell lines from a patient diagnosed with LCA carrying the RDH12 compound heterozygous mutations c.

Generation and characterization of two induced pluripotent stem cell lines from conjunctiva of a retinoblastoma patient.

Retinoblastoma (RB) is a common intraocular malignancy mostly caused by variation of the tumour suppressor gene RB1. In this study, we successfully generated two induced pluripotent stem cell (iPSC) lines from an infant with non-heritable RB. Both cell clones exhibited typical iPSC characteristics with normal karyotypes, consistent pluripotency markers expression and the capability of trilineage differentiation.

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

CLCN2 encodes a two-pore homodimeric chloride channel protein (CLC-2) that is widely expressed in human tissues. The association between Clcn2 and the retina is well-established in mice, as loss-of-function of CLC-2 can cause retinopathy in mice; however, the ocular phenotypes caused by CLCN2 mutations in humans and the underlying mechanisms remain unclear. The present study aimed to define the ocular features and reveal the pathogenic mechanisms of CLCN2 variants associated with retinal degeneration in humans using an in vitro overexpression system, as well as patient-induced pluripotent stem cell (iPSC)-derived retinal pigment epithelium (RPE) cells and retinal organoids (ROs).

Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family.

PROM1-related retinal dystrophy (PROM1-RD) is a group of hereditary retinal disorder characterized by the progressive damage of the photoreceptors. We generated and identified two induced pluripotent stem cell (iPSC) lines carrying homozygous or heterozygous nonsense mutation c.619G > T (p.