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
Summary
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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Na DH, Lim SW, Kim BM, Kim KW, Shin YJ, Chae H, Ko EJ, Yang CW, Kim M, Chung BH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101876 |
| PubMed | 32563974 |
| DOI | 10.1016/j.scr.2020.101876 |