| Autor: |
Malte Juchem, Nele Lehmann, Yvonne Lisa Behrens, Christian Bär, Thomas Thum, Jeannine Hoepfner |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 79, Iss , Pp 103478- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103478 |
| Popis: |
The X-linked lysosomal storage disorder Fabry disease originates from GLA gene mutations causing α-galactosidase A enzyme deficiency. Here we generated the GLA knockout hiPSC line MHHi001-A-15 (GLA-KO hiPSC) as an in vitro Fabry disease model by targeting exon 2 of the GLA gene by CRISPR/Cas9 in the established control hiPSC line MHHi001-A. GLA-KO hiPSCs retained the expression of pluripotency markers, trilineage differentiation potential, as well as normal karyotype and stem cell morphology but lacked α-galactosidase A enzyme activity. The GLA-KO hiPSCs represent a potent resource to not only study the Fabry disease manifestation but also screen for novel treatment options. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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