DC Field | Value | Language |
---|---|---|
dc.contributor.author | Choi, Jong Bin | ko |
dc.contributor.author | Seo, Donghyuk | ko |
dc.contributor.author | Do, Hyo-Sang | ko |
dc.contributor.author | Han, Yong-Mahn | ko |
dc.date.accessioned | 2023-03-13T05:01:35Z | - |
dc.date.available | 2023-03-13T05:01:35Z | - |
dc.date.created | 2023-03-13 | - |
dc.date.created | 2023-03-13 | - |
dc.date.issued | 2023-02 | - |
dc.identifier.citation | STEM CELL RESEARCH, v.66 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | http://hdl.handle.net/10203/305574 | - |
dc.description.abstract | Fabry disease (FD) is a lysosomal storage disorder caused by mutations in GLA gene. Here, GLA mutation (1268fs*1 (c.803_806del)) of FD iPSCs was corrected using the CRISPR-Cas9 gene editing system. The corrected (cor) FD-iPSCs retained normal morphology, karyotype, expression of pluripotency-associated markers, trilineage differentiation potential, and GLA activity. Thus, FD(cor)-iPSCs can be used as valuable tools to study the mechanism how GLA mutation1268fs*1 induces various pathophysiologic phenotypes in FD patients. | - |
dc.language | English | - |
dc.publisher | ELSEVIER | - |
dc.title | Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having a-galactosidase (GLA) gene mutation (c.803_806del) | - |
dc.type | Article | - |
dc.identifier.wosid | 000931797800009 | - |
dc.identifier.scopusid | 2-s2.0-85143804794 | - |
dc.type.rims | ART | - |
dc.citation.volume | 66 | - |
dc.citation.publicationname | STEM CELL RESEARCH | - |
dc.identifier.doi | 10.1016/j.scr.2022.103001 | - |
dc.contributor.localauthor | Han, Yong-Mahn | - |
dc.contributor.nonIdAuthor | Do, Hyo-Sang | - |
dc.description.isOpenAccess | N | - |
dc.type.journalArticle | Article | - |
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