Generation of a human induced pluripotent stem cell line from a patient with dent disease

# Y-27632 dihydrochloride (BioGems 1293823)

Xianying Fang a1, Ji Hyun Kim b1, Sheng Cui a, Yoo Jin Shin a, Hanbi Lee b, Eun Jeong Ko b, Hae Il Cheong c, Sejoong Kim d, Hoon Seok Kim e, Myungshin Kim e, Chul Woo Yang af, Sun Woo Lim a1, Byung Ha Chung af1

Abstract

Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC) line from peripheral blood mononuclear cells of 10-year-old male with Dent disease 1 caused by the mutation of Chloride Voltage-Gated Channel 5 gene. This hiPSCs displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers. The implications of this research extend to the potential development of novel treatments for Dent disease.

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