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


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

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