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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.
Stem Cell Res. 2020 07; 46:101876.SC

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.

Authors+Show Affiliations

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.Convergent Research Consortium for Immunologic Disease; Transplant Research Center.Convergent Research Consortium for Immunologic Disease; Transplant Research Center.Convergent Research Consortium for Immunologic Disease; Transplant Research Center.Convergent Research Consortium for Immunologic Disease; Transplant Research Center.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.Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine.Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine.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.Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine. Electronic address: chungbh@catholic.ac.kr.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

32563974

Citation

Na, Do Hyun, et al. "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, vol. 46, 2020, p. 101876.
Na DH, Lim SW, Kim BM, et al. 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;46:101876.
Na, D. H., Lim, S. W., Kim, B. M., Kim, K. W., Shin, Y. J., Chae, H., Ko, E. J., Yang, C. W., Kim, M., & Chung, B. H. (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. Stem Cell Research, 46, 101876. https://doi.org/10.1016/j.scr.2020.101876
Na DH, et al. 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;46:101876. PubMed PMID: 32563974.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Na,Do Hyun, AU - Lim,Sun Woo, AU - Kim,Bo-Mi, AU - Kim,Kyoung Woon, AU - Shin,Yoo Jin, AU - Chae,Hyojin, AU - Ko,Eun Jeong, AU - Yang,Chul Woo, AU - Kim,Myungshin, AU - Chung,Byung Ha, Y1 - 2020/06/12/ PY - 2020/02/04/received PY - 2020/06/05/revised PY - 2020/06/08/accepted PY - 2020/6/22/pubmed PY - 2020/6/22/medline PY - 2020/6/22/entrez KW - FAN1 gene KW - Induced pluripotent stem cell KW - Karyomegalic interstitial nephritis SP - 101876 EP - 101876 JF - Stem cell research JO - Stem Cell Res VL - 46 N2 - 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. SN - 1876-7753 UR - https://www.unboundmedicine.com/medline/citation/32563974/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 L2 - https://linkinghub.elsevier.com/retrieve/pii/S1873-5061(20)30177-X DB - PRIME DP - Unbound Medicine ER -
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