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.

Abstract excerpt

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...

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