Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
(2023) In Stem Cell Research 73.- 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... (More)
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.
(Less)
- author
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Stem Cell Research
- volume
- 73
- article number
- 103211
- publisher
- Elsevier
- external identifiers
-
- pmid:37890334
- scopus:85174686585
- ISSN
- 1873-5061
- DOI
- 10.1016/j.scr.2023.103211
- language
- English
- LU publication?
- yes
- id
- 399e699b-e595-4804-b730-0f107810084a
- date added to LUP
- 2023-12-07 12:04:37
- date last changed
- 2024-04-20 06:23:06
@article{399e699b-e595-4804-b730-0f107810084a,
abstract = {{<p>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.</p>}},
author = {{Pavan, C. and Jin, J. and Jong, S. and Strbenac, D. and Davis, R. L. and Sue, C. M. and Johnston, J. and Lynch, T. and Halliday, G. and Kirik, D. and Parish, C. L. and Thompson, L. H. and Ovchinnikov, D. A.}},
issn = {{1873-5061}},
language = {{eng}},
publisher = {{Elsevier}},
series = {{Stem Cell Research}},
title = {{Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene}},
url = {{http://dx.doi.org/10.1016/j.scr.2023.103211}},
doi = {{10.1016/j.scr.2023.103211}},
volume = {{73}},
year = {{2023}},
}