An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene


Distal renal tubular acidosis (dRTA), a disease characterized by the failure of the distal nephron to secrete acid into the urine, can be caused by mutations in SLC4A1 gene encoding erythroid and kidney anion exchanger 1 (AE1). Here, an induced pluripotent stem cell (iPSC) line was generated from a patient with dRTA and hemolytic anemia carrying compound heterozygous SLC4A1 mutations containing c.1199_1225del (p.Ala400_Ala408del), resulting in Southeast Asian ovalocytosis (SAO), and c.1331C>A (p.Thr444Asn). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using Sendai viral reprogramming. The established iPSC line, MUSIi019-A, exhibited pluripotent property and retained the same mutations observed in the patients. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Kaewboonlert N, Wattanapanitch M, Praditsap O, Deejai N, Chanprasert C, Sawasdee N, Nettuwakul C, Wanachiwanawin W, Sritippayawan S, Thamtarana PJ, Yenchitsomanus PT, Rungroj N
Journal Stem cell research
Publication Date 2023 Mar;67:103043
PubMed 36791635
DOI 10.1016/j.scr.2023.103043

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