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

doi:10.1016/j.scr.2021.102214

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

Stem Cell Res. 2021 Mar:51:102214. doi: 10.1016/j.scr.2021.102214. Epub 2021 Jan 30.

Authors

Sheng Cui¹, Yoo Jin Shin¹, Eun Jeong Ko², Sun Woo Lim¹, Ji Hyeon Ju³, Kang In Lee⁴, Jae Young Lee⁴, Chul Woo Yang², Byung Ha Chung⁵

Affiliations

¹ 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.
² 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.
³ R&D Center, ToolGen, InC., #1204 Byucksan Digital Valley 6-cha, 219 Gasan Digital 1-ro, Geumcheon-gu, Seoul 08501, Republic of Korea.
⁴ Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea.
⁵ 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. Electronic address: chungbh@catholic.ac.kr.

PMID: 33545641
DOI: 10.1016/j.scr.2021.102214

Abstract

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.

Keywords: Fabry disease; GLA gene; Human induced pluripotent stem cells.

Publication types

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

MeSH terms

Fabry Disease* / genetics
Female
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Male
Mutation
Sequence Deletion
alpha-Galactosidase / genetics

Substances

alpha-Galactosidase