Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

Do Hyun Na; Sun Woo Lim; Bo-Mi Kim; Kyoung Woon Kim; Yoo Jin Shin; Hyojin Chae; Eun Jeong Ko; Chul Woo Yang; Myungshin Kim; Byung Ha Chung

Stem Cell Research (Jul 2020)

Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

Do Hyun Na,
Sun Woo Lim,
Bo-Mi Kim,
Kyoung Woon Kim,
Yoo Jin Shin,
Hyojin Chae,
Eun Jeong Ko,
Chul Woo Yang,
Myungshin Kim,
Byung Ha Chung

Affiliations

Do Hyun Na: Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine; Korea Ordnance Tactical Attack Range, Republic of Korea Air Force, Gangwon, South Korea
Sun Woo Lim: Convergent Research Consortium for Immunologic Disease; Transplant Research Center
Bo-Mi Kim: Convergent Research Consortium for Immunologic Disease; Transplant Research Center
Kyoung Woon Kim: Convergent Research Consortium for Immunologic Disease; Transplant Research Center
Yoo Jin Shin: Convergent Research Consortium for Immunologic Disease; Transplant Research Center
Hyojin Chae: Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul; Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul; Center for Applied Genomics and Precision Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul
Eun Jeong Ko: Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine
Chul Woo Yang: Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine
Myungshin Kim: Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul; Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul; Center for Applied Genomics and Precision Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea Seoul; Corresponding authors at: Department of Internal Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, South Korea (B. Ha Chung). Department of Laboratory Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, South Korea (M. Kim).
Byung Ha Chung: Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine; Corresponding authors at: Department of Internal Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, South Korea (B. Ha Chung). Department of Laboratory Medicine, Seoul St. Mary’s Hospital, Banpodaero 222, Seocho-Ku, 06591 Seoul, South Korea (M. Kim).

Journal volume & issue: Vol. 46
p. 101876

Abstract

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The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-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 PBMCs of the patient and KIN-hiPSCs showed 47, XXX. In summary, we generated a novel patient-specific hiPSC line containing the mutation of FAN1 gene and it can be used to provide additional insights for KIN 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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