Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation

Mutations in the oncogene PARK7, which codes for DJ-1, have been associated with early-onset autosomal recessive Parkinson’s disease (PD); however, the exact role of DJ-1 in PD remains elusive. Fibroblasts from a PD patient with a uniparental disomy, 1 bp deletion in PARK7 were reprogrammed into the...

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Autores principales: Mazza, Melissa Conti, Beilina, Alexandra, Roosen, Dorien A., Hauser, David, Cookson, Mark R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451958/
https://www.ncbi.nlm.nih.gov/pubmed/34419745
http://dx.doi.org/10.1016/j.scr.2021.102506
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author Mazza, Melissa Conti
Beilina, Alexandra
Roosen, Dorien A.
Hauser, David
Cookson, Mark R.
author_facet Mazza, Melissa Conti
Beilina, Alexandra
Roosen, Dorien A.
Hauser, David
Cookson, Mark R.
author_sort Mazza, Melissa Conti
collection PubMed
description Mutations in the oncogene PARK7, which codes for DJ-1, have been associated with early-onset autosomal recessive Parkinson’s disease (PD); however, the exact role of DJ-1 in PD remains elusive. Fibroblasts from a PD patient with a uniparental disomy, 1 bp deletion in PARK7 were reprogrammed into the induced pluripotent stem cell (iPSC) line: NIHTVBi015-A. For control purposes, CRISPR-Cas9 editing was used to mimic the mutation in the Gibco Human Episomal iPSC line: TMOi001-A is the control line (A18945) and TMOi001-A-3 is the control-edited line (2B10). All 3 lines exhibit normal karyotyping and expression of pluripotent markers: OCT4, SOX2, and NANOG. These lines provide a translational environment to study DJ-1-related function in PD.
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spelling pubmed-84519582021-09-20 Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation Mazza, Melissa Conti Beilina, Alexandra Roosen, Dorien A. Hauser, David Cookson, Mark R. Stem Cell Res Article Mutations in the oncogene PARK7, which codes for DJ-1, have been associated with early-onset autosomal recessive Parkinson’s disease (PD); however, the exact role of DJ-1 in PD remains elusive. Fibroblasts from a PD patient with a uniparental disomy, 1 bp deletion in PARK7 were reprogrammed into the induced pluripotent stem cell (iPSC) line: NIHTVBi015-A. For control purposes, CRISPR-Cas9 editing was used to mimic the mutation in the Gibco Human Episomal iPSC line: TMOi001-A is the control line (A18945) and TMOi001-A-3 is the control-edited line (2B10). All 3 lines exhibit normal karyotyping and expression of pluripotent markers: OCT4, SOX2, and NANOG. These lines provide a translational environment to study DJ-1-related function in PD. 2021-08-17 2021-08 /pmc/articles/PMC8451958/ /pubmed/34419745 http://dx.doi.org/10.1016/j.scr.2021.102506 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Mazza, Melissa Conti
Beilina, Alexandra
Roosen, Dorien A.
Hauser, David
Cookson, Mark R.
Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title_full Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title_fullStr Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title_full_unstemmed Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title_short Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
title_sort generation of ipsc line from a parkinson patient with park7 mutation and crispr-edited gibco human episomal ipsc line to mimic park7 mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451958/
https://www.ncbi.nlm.nih.gov/pubmed/34419745
http://dx.doi.org/10.1016/j.scr.2021.102506
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