Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene
Summary
Alport syndrome is an inherited chronic kidney disease with genetic heterogeneity. There are three modes of inheritance: X-linked dominant inheritance, autosomal recessive inheritance, and autosomal dominant inheritance. Autosomal recessive inheritance accounts for about 14%-15% of all cases of Alport syndrome and is caused by the COL4A3 or COL4A4 gene mutation. In this study, the peripheral blood mononuclear cells (PBMCs) of a patient with a novel COL4A4 homozygous mutation were reprogrammed into an induced pluripotent stem cell (iPSC) line. The iPSC line can provide a cell model for studying the pathogenesis of the disease and drug screening. Copyright © 2021. Published by Elsevier B.V.
| Authors | Wang G, Gao E, Wu H, Zhang L, Zhu Y, Zhang J, Liu Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Jan;58:102628 |
| PubMed | 34942480 |
| DOI | 10.1016/j.scr.2021.102628 |