Stem Cell Research (Dec 2024)

Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system

  • Sun Woo Lim,
  • Kang In Lee,
  • Sheng Cui,
  • Xianying Fang,
  • Yoo Jin Shin,
  • Hanbi Lee,
  • Chul Woo Yang,
  • Jae Young Lee,
  • Byung Ha Chung

Journal volume & issue
Vol. 81
p. 103522

Abstract

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Gitelman’s disease is caused by a genetic mutation in the solute carrier family 12 member 3 (SLC12A3) gene, which encodes the sodium chloride cotransporter. In this study, we generated a stable human induced pluripotent stem cell (hiPSC) line, WTC11-SLC12A3 (CMCi014-A-82), by knocking in the entire SLC12A3 gene at the SHS231 locus in healthy wild-type control hiPSCs (WTC11). We verified that WTC11-SLC12A3 expressed pluripotency markers and exhibited normal stem cell morphology. Furthermore, this cell line maintains a normal karyotype and can differentiate into the three germ layers. Therefore, this cell line may provide a basis for gene therapy for Gitelman’s disease.