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

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

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 vi...

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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Subjects:
Karyomegalic interstitial nephritis
FAN1 gene
Induced pluripotent stem cell
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612030177X
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spelling doaj-0c21515b32a74e6dbc9f70dd771d89582020-11-25T03:10:52ZengElsevierStem Cell Research1873-50612020-07-0146101876Generation 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 geneDo Hyun Na0Sun Woo Lim1Bo-Mi Kim2Kyoung Woon Kim3Yoo Jin Shin4Hyojin Chae5Eun Jeong Ko6Chul Woo Yang7Myungshin Kim8Byung Ha Chung9Convergent 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 KoreaConvergent Research Consortium for Immunologic Disease; Transplant Research CenterConvergent Research Consortium for Immunologic Disease; Transplant Research CenterConvergent Research Consortium for Immunologic Disease; Transplant Research CenterConvergent Research Consortium for Immunologic Disease; Transplant Research CenterDepartment 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 SeoulConvergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal MedicineConvergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal MedicineDepartment 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).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).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.http://www.sciencedirect.com/science/article/pii/S187350612030177XKaryomegalic interstitial nephritisFAN1 geneInduced pluripotent stem cell
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
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
Stem Cell Research
Karyomegalic interstitial nephritis
FAN1 gene
Induced pluripotent stem cell
author_facet 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
author_sort Do Hyun Na
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-07-01
description 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.
topic Karyomegalic interstitial nephritis
FAN1 gene
Induced pluripotent stem cell
url http://www.sciencedirect.com/science/article/pii/S187350612030177X
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