Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9


Fabry disease is an X-linked inherited disease caused by a mutation in the galactosidase alpha (GLA) gene. Here, we generated a GLA knock-out cell line (GLA-KO hiPSCs) from normal human-induced pluripotent stem cells (hFSiPS1) using the CRISPR-Cas9 genome-editing tool. The GLA-KO hiPSCs maintained normal morphology, karyotypes, expression of stemness markers, and trilineage differentiation potential. Furthermore, the GLA-KO hiPSCs exhibited dissipation of GLA activity and abnormal Globotriaosylceramide (Gb3) accumulation. Our GLA-KO hiPSC line represents a valuable tool for studying the mechanisms involved in Fabry disease and the development of novel therapeutic alternatives to treat this rare condition. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kim YK, Yu JH, Min SH, Park SW
Journal Stem cell research
Publication Date 2020 Jan;42:101676
PubMed 31841972
DOI 10.1016/j.scr.2019.101676

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