Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
Summary
The most common cause of autosomal recessive familial Parkinson's disease (PD) are mutations in the PRKN/PARK2 gene encoding an E3 ubiquitin protein-ligase PARKIN. We report the generation of an iPSC cell line from the fibroblasts of a male PD patient carrying a common missense variant in exon 7 (p.Arg275Trp), and a 133 kb deletion encompassing exon 8, using transiently-present Sendai virus. The established line displays typical human primed iPSC morphology and expression of pluripotency-associated markers, normal karyotype without SNP array-detectable copy number variations and can give rise to derivatives of all three embryonic germ layers. We envisage the usefulness of this iPSC line, carrying a common and well-studied missense mutation in the RING1 domain of the PARKIN protein, for the elucidation of PARKIN-dependent mechanisms of PD using in vitro and in vivo models. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Pavan C, Jin J, Jong S, Strbenac D, Davis RL, Sue CM, Johnston J, Lynch T, Halliday G, Kirik D, Parish CL, Thompson LH, Ovchinnikov DA |
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| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103211 |
| PubMed | 37890334 |
| DOI | 10.1016/j.scr.2023.103211 |