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Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene

Authors :
C. Pavan
J. Jin
S. Jong
D. Strbenac
R.L. Davis
C.M. Sue
J. Johnston
T. Lynch
G. Halliday
D. Kirik
C.L. Parish
L.H. Thompson
D.A. Ovchinnikov
Source :
Stem Cell Research, Vol 73, Iss , Pp 103211- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
73
Issue :
103211-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.831272ce9f384a1b91499f6dc0aaa686
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2023.103211