Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
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....
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001976 |
| _version_ | 1827593654938632192 |
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| author | 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 |
| author_facet | 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 |
| author_sort | C. Pavan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T02:14:48Z |
| format | Article |
| id | doaj.art-831272ce9f384a1b91499f6dc0aaa686 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-09T02:14:48Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-831272ce9f384a1b91499f6dc0aaa6862023-12-07T05:28:15ZengElsevierStem Cell Research1873-50612023-12-0173103211Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN geneC. Pavan0J. Jin1S. Jong2D. Strbenac3R.L. Davis4C.M. Sue5J. Johnston6T. Lynch7G. Halliday8D. Kirik9C.L. Parish10L.H. Thompson11D.A. Ovchinnikov12The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 AustraliaThe Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 AustraliaThe Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 AustraliaUniversity of Sydney, Sydney, NSW 2006, AustraliaUniversity of Sydney, Sydney, NSW 2006, AustraliaNeuroscience Research Australia and University of New South Wales, Sydney, NSW 2031, AustraliaNysnoBio, Mill Valley, CA 94941, U.S.AMater Misericordiae University Hospital, Dublin, D07 R2WY, IrelandUniversity of Sydney, Sydney, NSW 2006, AustraliaUniversity of Sydney, Sydney, NSW 2006, Australia; Lund University, Lund, 22184 SwedenThe Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 AustraliaThe Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 Australia; University of Sydney, Sydney, NSW 2006, Australia; Corresponding authors.The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC 3010 Australia; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506123001976 |
| spellingShingle | 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 Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene 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 |
| title_full | Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene |
| title_fullStr | Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene |
| title_full_unstemmed | Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene |
| title_short | Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene |
| title_sort | generation of the ipsc line fini002 a from a male parkinson s disease patient carrying compound heterozygous mutations in the prkn gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001976 |
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