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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.
The NIMHi001-A-1 line demonstrated trilineage differentiation potential and tested negative for mycoplasma, providing an isogenic platform to investigate LRRK2 I1371V-specific pathomechanisms and evaluate therapeutic strategies.
Genotype-Phenotype Correlations in THAP1-Associated Dystonia: A Multicentric Observational Study.
BACKGROUND DYT-THAP1 is a recognized cause of early-onset isolated dystonia. However, available data are largely derived from European cohorts, limiting understanding of genetic diversity, phenotype variability, and treatment response in underrepresented populations. OBJECTIVES To characterize the clinical spectrum,...