PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson's disease female patient
Summary
Compound heterozygosity for strong hypomorphic mutations in the PRKN gene is a common cause of autosomal familial Parkinson's disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5-7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD. Copyright © 2025. Published by Elsevier B.V.
| Authors | Pavan C, Jin J, Jong S, Qian G, Strbenac D, Davis RL, Halliday GM, Kirik D, Parish CL, Thompson LH, Sue CM, Ovchinnikov DA |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 29;87:103795 |
| PubMed | 40749621 |
| DOI | 10.1016/j.scr.2025.103795 |