Generation of a CRISPR/Cas9-corrected isogenic control iPSC line (NIMHi001-A-1) from a Parkinson's disease Patient-Derived iPSC line carrying the LRRK2 I1371V mutation.

CRISPR/Cas9 editing successfully corrected the LRRK2 I1371V mutation in a Parkinson's disease patient-derived iPSC line, creating an isogenic control line with confirmed genetic integrity.

• Why it matters: This work addresses the need for precise cellular models to study the specific effects of LRRK2 mutations in Parkinson's disease and to evaluate targeted therapies.
• What they did: Researchers used CRISPR/Cas9 to correct the heterozygous LRRK2 I1371V mutation in patient-derived iPSCs, then confirmed correction via Sanger sequencing and assessed pluripotency, karyotype, off-target effects, and differentiation potential.
• The result: The resulting line retained pluripotency, normal karyotype, and differentiation capacity, and showed no off-target modifications, enabling its use to investigate mutation-specific disease mechanisms and treatments.