CRISPR/Cas9-based GLA knockout to generate the female Fabry disease human induced pluripotent stem cell line MHHi001-A-15
Summary
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-KOhiPSC) 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-KOhiPSCs 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-KOhiPSCs represent a potent resource to not only study the Fabry disease manifestation but also screen for novel treatment options. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Juchem M, Lehmann N, Behrens YL, Bär C, Thum T, Hoepfner J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103478 |
| PubMed | 38905814 |
| DOI | 10.1016/j.scr.2024.103478 |