Generation of the integration-free induced pluripotent stem cell line (FHUSTCi001-A) from a patient with glomerulopathy with fibronectin deposits harboring FN1 mutation

[摘要] Glomerulopathy with fibronectin deposits (GFND) is an autosomal dominant kidney disease exhibiting microscopic hematuria, proteinuria, and hypertension that may lead to end-stage renal failure. In this study, using non-integrative episomal vectors an induced pluripotent stem cell (iPSC) line, FHUSTCi001-A, was derived from peripheral blood mononuclear cells of an 11-year-old boy with GFND carrying a heterozygous c.5602G > A (p.V1868M) mutation in the FN1 gene. The generated iPSC line has a normal karyotype, expresses pluripotency markers, and has the capacity to form all three germ layers in vivo . This iPSC line offers a useful cellular model to study the pathogenesis of GFND disease.

[学科分类] 生理学