Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene
Summary
Pathogenic mutations in the COL4A5 gene are the main causes of X-Linked Alport Syndrome (XLAS). Here, to better understand the pathogenic mechanism of XLAS, we generated an iPSC line (GWCMCi002-A) from the peripheral blood mononuclear cells (PBMCs) of an 8-year-old male XLAS patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene. This cell line will be beneficial for the study of the pathogenic mechanism of XLAS and the development of treatment strategies. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gao X, Li G, Deng H, Feng W, Li Y, Liu M, Li Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102388 |
| PubMed | 34088015 |
| DOI | 10.1016/j.scr.2021.102388 |