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
Summary
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 |