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

Narissara Kaewboonlert; Methichit Wattanapanitch; Oranud Praditsap; Nipaporn Deejai; Chutima Chanprasert; Nunghathai Sawasdee; Choochai Nettuwakul; Wanchai Wanachiwanawin; Suchai Sritippayawan; Prapaporn Jungtrakoon Thamtarana; Pa-Thai Yenchitsomanus; Nanyawan Rungroj

doi:10.1016/j.scr.2023.103043

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

Stem Cell Res. 2023 Mar:67:103043. doi: 10.1016/j.scr.2023.103043. Epub 2023 Feb 10.

Affiliations

¹ Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Biomedical Sciences Program, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
² Siriraj Center for Regenerative Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
³ Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁴ Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁵ Cellular and Molecular Biology of Diabetes Research Group, Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁶ Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁷ Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁸ Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: nanyawan.run@mahidol.ac.th.

PMID: 36791635
DOI: 10.1016/j.scr.2023.103043

Abstract

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.

Keywords: Distal renal tubular acidosis; Hemolytic anemia; SAO; SLC4A1; iPSC.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Acidosis, Renal Tubular* / genetics
Anion Exchange Protein 1, Erythrocyte / genetics
Anion Exchange Protein 1, Erythrocyte / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear / metabolism
Mutation

Substances

dirhodium tetraacetate
Anion Exchange Protein 1, Erythrocyte
SLC4A1 protein, human