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

Affiliations

¹ 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.
² Convergent Research Consortium for Immunologic Disease; Transplant Research Center.
³ 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.
⁴ Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine.
⁵ 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. Electronic address: microkim@catholic.ac.kr.
⁶ Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine. Electronic address: chungbh@catholic.ac.kr.

PMID: 32563974
DOI: 10.1016/j.scr.2020.101876

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Case Reports

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 et al. Stem Cell Res. 2020 Jul.

Free article

. 2020 Jul:46:101876.

doi: 10.1016/j.scr.2020.101876. Epub 2020 Jun 12.

Authors

Affiliations

¹ 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.
² Convergent Research Consortium for Immunologic Disease; Transplant Research Center.
³ 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.
⁴ Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine.
⁵ 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. Electronic address: microkim@catholic.ac.kr.
⁶ Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine. Electronic address: chungbh@catholic.ac.kr.

PMID: 32563974
DOI: 10.1016/j.scr.2020.101876

Abstract

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.

Keywords: FAN1 gene; Induced pluripotent stem cell; Karyomegalic interstitial nephritis.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous