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.

Abstract

We report NIMHi001-A-1, a CRISPR/Cas9-corrected isogenic iPSC line derived from a patient line carrying a heterozygous LRRK2 missense mutation GRCh38 chr12:g.40308618A > G [(MANE transcript NM_198578.4:c.4111A > G); p.Ile1371Val] associated with familial Parkinson's disease. Sanger sequencing confirmed successful correction. The line retained iPSC morphology and expressed pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60, SSEA4) by immunofluorescence, gene expression analysis, and flow cytometry. Normal karyotype (46, XY) and complete genetic identity with the parental line were established by STR profiling. No off-target modifications were detected. The line demonstrated trilineage differentiation potential and tested negative for mycoplasma, providing an isogenic platform to investigate LRRK2 I1371V-specific pathomechanisms and evaluate therapeutic strategies.