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

doi:10.1016/j.scr.2024.103522

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

Department of Internal Medicine

The Catholic University of Korea
ToolGen Inc
Catholic Univ. of Korea Coll. Med.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

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.

Original language	English
Article number	103522
Journal	Stem Cell Research
Volume	81
DOIs	https://doi.org/10.1016/j.scr.2024.103522
State	Published - Dec 2024

Bibliographical note

Publisher Copyright:
© 2024 The Authors

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.scr.2024.103522

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

abstract = "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.",

author = "\{Woo Lim\}, Sun and \{In Lee\}, Kang and Sheng Cui and Xianying Fang and \{Jin Shin\}, Yoo and Hanbi Lee and \{Woo Yang\}, Chul and \{Young Lee\}, Jae and \{Ha Chung\}, Byung",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors",

year = "2024",

month = dec,

doi = "10.1016/j.scr.2024.103522",

language = "English",

volume = "81",

journal = "Stem Cell Research",

issn = "1873-5061",

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T1 - Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system

AU - Woo Lim, Sun

AU - In Lee, Kang

AU - Cui, Sheng

AU - Fang, Xianying

AU - Jin Shin, Yoo

AU - Lee, Hanbi

AU - Woo Yang, Chul

AU - Young Lee, Jae

AU - Ha Chung, Byung

PY - 2024/12

Y1 - 2024/12

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85201462031

U2 - 10.1016/j.scr.2024.103522

DO - 10.1016/j.scr.2024.103522

M3 - Article

C2 - 39163808

AN - SCOPUS:85201462031

SN - 1873-5061

VL - 81

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103522

ER -

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

Abstract

Bibliographical note

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