Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.
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DOI: 10.1016/j.scr.2020.102023
Abstract: The clinical manifestations of Alport syndrome may vary depending on the involved organs such as the kidneys, cochlea and eyes. The pathogenic genes involved are those encoding different chains of type IV collagen. We collected… read more here.
Keywords: col4a5 gene; gene mutation; novel col4a5; patient novel ... See more keywords