Creating and validating patient stem cell lines with and without a specific RD3 gene mutation linked to Leber Congenital Amaurosis type 12

A patient-specific iPSC line (LVPEIi006-B) was generated for Leber congenital amaurosis, Type 12.

• Leber congenital amaurosis, Type 12 is an early onset retinal disease linked to mutations in RD3.
• An isogenic, mutation-corrected iPSC line (LVPEIi006-B-1) was created using an adenine base editor system.
• Both iPSC lines were confirmed to possess the patient-specific mutation and the intended genetic correction.
• The iPSC lines maintained characteristics of stem cells and could successfully differentiate into retinal organoids.
• Retinal organoids derived from the mutation-corrected iPSCs showed a partial restoration of normal RD3 mRNA splicing.

Simplified