Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation

Sheng Cui; Yoo Jin Shin; Eun Jeong Ko; Sun Woo Lim; Ji Hyeon Ju; Kang In Lee; Jae Young Lee; Chul Woo Yang; Byung Ha Chung

Stem Cell Research (Mar 2021)

Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation

Sheng Cui,
Yoo Jin Shin,
Eun Jeong Ko,
Sun Woo Lim,
Ji Hyeon Ju,
Kang In Lee,
Jae Young Lee,
Chul Woo Yang,
Byung Ha Chung

Affiliations

Sheng Cui: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Yoo Jin Shin: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Eun Jeong Ko: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Sun Woo Lim: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Ji Hyeon Ju: R&D Center, ToolGen, InC., #1204 Byucksan Digital Valley 6-cha, 219 Gasan Digital 1-ro, Geumcheon-gu, Seoul 08501, Republic of Korea
Kang In Lee: Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Jae Young Lee: Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Chul Woo Yang: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea
Byung Ha Chung: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Corresponding author at: Convergent Research Consortium for Immunologic Disease, Seoul St. Mary’s Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea.

Journal volume & issue: Vol. 51
p. 102214

Abstract

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Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.

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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