Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gopurappilly, Renjitha, Musthafa, Thasneem, Sukumaran, Salil, Viswanath, Biju, Hasan, Gaiti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
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
_version_ 1783605609487138816
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
work_keys_str_mv AT gopurappillyrenjitha generationoffeederindependenttransgenefreeipsclinesfromayoungonsetparkinsonsdiseaseyopdpatientwithahomozygouspla2g6c2222gaparg741glnmutationncbsi003aandunaffectedheterozygousparentncbsi004a
AT musthafathasneem generationoffeederindependenttransgenefreeipsclinesfromayoungonsetparkinsonsdiseaseyopdpatientwithahomozygouspla2g6c2222gaparg741glnmutationncbsi003aandunaffectedheterozygousparentncbsi004a
AT sukumaransalil generationoffeederindependenttransgenefreeipsclinesfromayoungonsetparkinsonsdiseaseyopdpatientwithahomozygouspla2g6c2222gaparg741glnmutationncbsi003aandunaffectedheterozygousparentncbsi004a
AT viswanathbiju generationoffeederindependenttransgenefreeipsclinesfromayoungonsetparkinsonsdiseaseyopdpatientwithahomozygouspla2g6c2222gaparg741glnmutationncbsi003aandunaffectedheterozygousparentncbsi004a
AT hasangaiti generationoffeederindependenttransgenefreeipsclinesfromayoungonsetparkinsonsdiseaseyopdpatientwithahomozygouspla2g6c2222gaparg741glnmutationncbsi003aandunaffectedheterozygousparentncbsi004a