Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del)
Summary
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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Choi JB, Seo D, Do HS, Han YM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:103001 |
| PubMed | 36516658 |
| DOI | 10.1016/j.scr.2022.103001 |