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

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

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....

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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Stem Cell Research
Subjects:
Fabry disease
GLA gene
Human induced pluripotent stem cells
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612100060X
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record_format Article
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
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 Research
Fabry disease
GLA gene
Human induced pluripotent stem cells
author_facet 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
author_sort Sheng Cui
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-03-01
description 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.
topic Fabry disease
GLA gene
Human induced pluripotent stem cells
url http://www.sciencedirect.com/science/article/pii/S187350612100060X
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spelling doaj-50da9ca66904439a80912be673068b542021-03-13T04:22:22ZengElsevierStem Cell Research1873-50612021-03-0151102214Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutationSheng Cui0Yoo Jin Shin1Eun Jeong Ko2Sun Woo Lim3Ji Hyeon Ju4Kang In Lee5Jae Young Lee6Chul Woo Yang7Byung Ha Chung8Convergent 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 KoreaConvergent 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 KoreaConvergent 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 KoreaConvergent 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 KoreaR&D Center, ToolGen, InC., #1204 Byucksan Digital Valley 6-cha, 219 Gasan Digital 1-ro, Geumcheon-gu, Seoul 08501, Republic of KoreaCatholic iPSC Research Center, College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of KoreaCatholic iPSC Research Center, College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of KoreaConvergent 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 KoreaConvergent 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.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.http://www.sciencedirect.com/science/article/pii/S187350612100060XFabry diseaseGLA geneHuman induced pluripotent stem cells

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