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PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson's disease female patient

Pavan, Chiara LU ; Jin, Jennifer ; Jong, Sharon ; Qian, Gordon ; Strbenac, Dario ; Davis, Ryan L. ; Halliday, Glenda M. ; Kirik, Deniz LU orcid ; Parish, Clare L. and Thompson, Lachlan H. LU , et al. (2025) In Stem Cell Research 87.
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
87
article number
103795
publisher
Elsevier
external identifiers
  • scopus:105012130120
  • pmid:40749621
ISSN
1873-5061
DOI
10.1016/j.scr.2025.103795
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2025
id
8fc1b8d1-2679-4323-aa17-4b43de71ce20
date added to LUP
2025-11-20 14:33:10
date last changed
2025-11-20 14:34:06
@article{8fc1b8d1-2679-4323-aa17-4b43de71ce20,
  abstract     = {{<p>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.</p>}},
  author       = {{Pavan, Chiara and Jin, Jennifer and Jong, Sharon and Qian, Gordon and Strbenac, Dario and Davis, Ryan L. and Halliday, Glenda M. and Kirik, Deniz and Parish, Clare L. and Thompson, Lachlan H. and Sue, Carolyn M. and Ovchinnikov, Dmitry A.}},
  issn         = {{1873-5061}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{Stem Cell Research}},
  title        = {{PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson's disease female patient}},
  url          = {{http://dx.doi.org/10.1016/j.scr.2025.103795}},
  doi          = {{10.1016/j.scr.2025.103795}},
  volume       = {{87}},
  year         = {{2025}},
}