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Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A)
Phospholipase A2 group 6 (PLA2G6, iPLA2β or PARK14) gene encodes a calcium-independent group 6 phospholipase A2 enzyme and is associated with young-onset autosomal recessive Parkinson’s disease (PD). We generated human induced pluripotent stem cell (iPSC) lines from a patient with young-onset PD car...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614486/ https://www.ncbi.nlm.nih.gov/pubmed/36706537 http://dx.doi.org/10.1016/j.scr.2023.103033 |
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author | Gopurappilly, Renjitha Musthafa, Thasneem Sukumaran, Salil Viswanath, Biju Hasan, Gaiti |
author_facet | Gopurappilly, Renjitha Musthafa, Thasneem Sukumaran, Salil Viswanath, Biju Hasan, Gaiti |
author_sort | Gopurappilly, Renjitha |
collection | PubMed |
description | Phospholipase A2 group 6 (PLA2G6, iPLA2β or PARK14) gene encodes a calcium-independent group 6 phospholipase A2 enzyme and is associated with young-onset autosomal recessive Parkinson’s disease (PD). We generated human induced pluripotent stem cell (iPSC) lines from a patient with young-onset PD carrying a homozygous PLA2G6: c.2222G> A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). These iPSC lines will be used for investigating the key molecular signatures of young-onset PD (YOPD), and to understand the predictive phenotypes of the disease. |
format | Online Article Text |
id | pubmed-7614486 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
record_format | MEDLINE/PubMed |
spelling | pubmed-76144862023-04-28 Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) Gopurappilly, Renjitha Musthafa, Thasneem Sukumaran, Salil Viswanath, Biju Hasan, Gaiti Stem Cell Res Article Phospholipase A2 group 6 (PLA2G6, iPLA2β or PARK14) gene encodes a calcium-independent group 6 phospholipase A2 enzyme and is associated with young-onset autosomal recessive Parkinson’s disease (PD). We generated human induced pluripotent stem cell (iPSC) lines from a patient with young-onset PD carrying a homozygous PLA2G6: c.2222G> A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). These iPSC lines will be used for investigating the key molecular signatures of young-onset PD (YOPD), and to understand the predictive phenotypes of the disease. 2023-03-01 2023-01-24 /pmc/articles/PMC7614486/ /pubmed/36706537 http://dx.doi.org/10.1016/j.scr.2023.103033 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Gopurappilly, Renjitha Musthafa, Thasneem Sukumaran, Salil Viswanath, Biju Hasan, Gaiti Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title | Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title_full | Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title_fullStr | Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title_full_unstemmed | Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title_short | Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson’s disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A) |
title_sort | generation of feeder-independent transgene-free ipsc lines from a young-onset parkinson’s disease (yopd) patient with a homozygous pla2g6: c.2222g>a (p. arg741gln) mutation (ncbsi003-a) and unaffected heterozygous parent (ncbsi004-a) |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614486/ https://www.ncbi.nlm.nih.gov/pubmed/36706537 http://dx.doi.org/10.1016/j.scr.2023.103033 |
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