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

Abstract

Listen

Translate article

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.