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

Stem Cell Research (Mar 2023)

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

Affiliations

Narissara Kaewboonlert: 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
Methichit Wattanapanitch: Siriraj Center for Regenerative Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Oranud Praditsap: Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Nipaporn Deejai: Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Chutima Chanprasert: Cellular and Molecular Biology of Diabetes Research Group, Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Nunghathai Sawasdee: Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Choochai Nettuwakul: Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Wanchai Wanachiwanawin: Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Suchai Sritippayawan: Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Prapaporn Jungtrakoon Thamtarana: Cellular and Molecular Biology of Diabetes Research Group, Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Pa-thai Yenchitsomanus: Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Nanyawan Rungroj: Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Corresponding author.

Journal volume & issue: Vol. 67
p. 103043

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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