Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene

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

Stem Cell Research (Mar 2021)

Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene

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

Affiliations

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
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
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
Kang In Lee: R&D Center, ToolGen, Inc., #1204 Byucksan Digital Valley 6-cha, 219 Gasan Digital 1-ro, Geumcheon-gu, Seoul 08501, Republic of Korea
Jae Young Lee: R&D Center, ToolGen, Inc., #1204 Byucksan Digital Valley 6-cha, 219 Gasan Digital 1-ro, Geumcheon-gu, Seoul 08501, 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
Myungshin Kim: Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Center for Applied Genomics and Precision Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Corresponding authors at: Department of Laboratory Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, 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 authors at: Department of Laboratory Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, Republic of Korea

Journal volume & issue: Vol. 51
p. 102215

Abstract

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The human-induced pluripotent stem cell lines (hiPSCs) (CMCi009), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman who were diagnosed as Birt-Hogg-Dubé syndrome (BHD) caused by the frameshift deletion mutation c.1285delC in FCLN gene, was generated using synthetic mRNA. Generated hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, and directly differentiated into all three germ layers. Karyotyping of generated iPSCs showed normal 46, XY (CMCi009-A) respectively. In summary, we generated a novel patient-specific hiPSCs line containing the same mutation of FLCN gene and it can be used to provide additional insights for BHD pathophysiology.

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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