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Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology.
Summary: Imagine slowly losing your vision in the dark, a condition called retinitis pigmentosa (RP). Right now, there is no cure for this disease. To help fix this, scientists took normal human stem cells and used a special tool called CRISPR to change their DNA. They added the exact same mistake (mutation) found in people with RP. Now, researchers have a living model in a dish to study the disease and test new treatments!
Tags
Retinal Diseases
Night Blindness
Disease
Point Mutation
Retinitis
Retinitis Pigmentosa