Generation of a COL4A5 heterozygous mutation human embryonic stem cell line (WAe009-A-58) using an episomal vector-based CRISPR/Cas9 system
Summary
X-linked Alport syndrome (XLAS) is the second most common inherited kidney disease which pathogenic variants related to a mutation in the COL4A5 gene encoding the type IV collagen α5 chain. Here, we have generated a COL4A5 heterozygous mutant human embryonic stem cell (hESC) line (H9-COL4A5+/-) by an episomal vector-based CRISPR/Cas9 system. The generated H9-COL4A5+/- maintained a normal stem cell morphology, stably expressed pluripotent markers, and could differentiate into all three germ layers in vivo. This cell line offers an in vitro efficient platform to explore pathogenic mechanisms in XLAS and provides a cell-based disease model for drug testing. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Tian L, Wu F, Bai R, Ma S, Zheng H, Liu WJ, Wang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Aug;55:102481 |
| PubMed | 34419749 |
| DOI | 10.1016/j.scr.2021.102481 |