Generation of human induced pluripotent stem cell lines with HMOX1 promoter polymorphism and CRISPR/Cas9-mediated deletion of exon 50 of DMD gene

2023
journal article
article
cris.lastimport.wos2024-04-10T00:52:24Z
dc.abstract.enDuchenne muscular dystrophy (DMD), originating from the lack of functional dystrophin, clinically manifests as devastating disease of skeletal muscles with progressive cardiac involvement. HMOX1 promoter polymorphism may reflect different activity of heme oxygenase-1 (HO-1) that may be critical for DMD progression. Here we generated human induced pluripotent stem cell (hiPSC) lines from healthy donors-derived peripheral blood mononuclear cells with different variants of HMOX1 promoter (GT repeats), and engineered by CRISPR/Cas9-mediated deletion of exon 50 of DMD gene. Such in vitro model could add to molecular understanding of DMD and verify the prognostic value of HMOX1 promoter polymorphism.pl
dc.affiliationWydział Biochemii, Biofizyki i Biotechnologii : Zakład Biotechnologii Medycznejpl
dc.contributor.authorPolak, Katarzyna - 247529 pl
dc.contributor.authorStępniewski, Jacek - 109218 pl
dc.contributor.authorŚcieżyńska, Anetapl
dc.contributor.authorPodgórska, Annapl
dc.contributor.authorDulak, Józef - 127818 pl
dc.contributor.authorFlorczyk-Soluch, Urszula - 104023 pl
dc.date.accessioned2022-12-19T15:05:00Z
dc.date.available2022-12-19T15:05:00Z
dc.date.issued2023pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.additionalOnline First 2022-12-13pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume66pl
dc.identifier.articleid103004pl
dc.identifier.doi10.1016/j.scr.2022.103004pl
dc.identifier.eissn1876-7753pl
dc.identifier.issn1873-5061pl
dc.identifier.urihttps://ruj.uj.edu.pl/xmlui/handle/item/304975
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 4.0 Międzynarodowa*
dc.rights.licenceCC-BY-NC-ND
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/legalcode.pl*
dc.share.typeotwarte czasopismo
dc.subtypeArticlepl
dc.titleGeneration of human induced pluripotent stem cell lines with HMOX1 promoter polymorphism and CRISPR/Cas9-mediated deletion of exon 50 of DMD genepl
dc.title.journalStem Cell Researchpl
dc.typeJournalArticlepl
dspace.entity.typePublication
cris.lastimport.wos
2024-04-10T00:52:24Z
dc.abstract.enpl
Duchenne muscular dystrophy (DMD), originating from the lack of functional dystrophin, clinically manifests as devastating disease of skeletal muscles with progressive cardiac involvement. HMOX1 promoter polymorphism may reflect different activity of heme oxygenase-1 (HO-1) that may be critical for DMD progression. Here we generated human induced pluripotent stem cell (hiPSC) lines from healthy donors-derived peripheral blood mononuclear cells with different variants of HMOX1 promoter (GT repeats), and engineered by CRISPR/Cas9-mediated deletion of exon 50 of DMD gene. Such in vitro model could add to molecular understanding of DMD and verify the prognostic value of HMOX1 promoter polymorphism.
dc.affiliationpl
Wydział Biochemii, Biofizyki i Biotechnologii : Zakład Biotechnologii Medycznej
dc.contributor.authorpl
Polak, Katarzyna - 247529
dc.contributor.authorpl
Stępniewski, Jacek - 109218
dc.contributor.authorpl
Ścieżyńska, Aneta
dc.contributor.authorpl
Podgórska, Anna
dc.contributor.authorpl
Dulak, Józef - 127818
dc.contributor.authorpl
Florczyk-Soluch, Urszula - 104023
dc.date.accessioned
2022-12-19T15:05:00Z
dc.date.available
2022-12-19T15:05:00Z
dc.date.issuedpl
2023
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.additionalpl
Online First 2022-12-13
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
66
dc.identifier.articleidpl
103004
dc.identifier.doipl
10.1016/j.scr.2022.103004
dc.identifier.eissnpl
1876-7753
dc.identifier.issnpl
1873-5061
dc.identifier.uri
https://ruj.uj.edu.pl/xmlui/handle/item/304975
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 4.0 Międzynarodowa
dc.rights.licence
CC-BY-NC-ND
dc.rights.uri*
http://creativecommons.org/licenses/by-nc-nd/4.0/legalcode.pl
dc.share.type
otwarte czasopismo
dc.subtypepl
Article
dc.titlepl
Generation of human induced pluripotent stem cell lines with HMOX1 promoter polymorphism and CRISPR/Cas9-mediated deletion of exon 50 of DMD gene
dc.title.journalpl
Stem Cell Research
dc.typepl
JournalArticle
dspace.entity.type
Publication
Affiliations

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