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

doi:10.1016/j.scr.2020.101876

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 Res. 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Fanconi Anemia Complementation Group D2 Protein
Fanconi Anemia Complementation Group Proteins
Female
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Nephritis, Interstitial* / genetics
Sequence Deletion

Substances

FANCD2 protein, human
FANCI protein, human
Fanconi Anemia Complementation Group D2 Protein
Fanconi Anemia Complementation Group Proteins