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)


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 2022 Dec 8;66:103001
PubMed 36516658
DOI 10.1016/j.scr.2022.103001

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