Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene
Summary
The human-induced pluripotent stem cell lines (hiPSCs) (CMCi009), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman who were diagnosed as Birt-Hogg-Dubé syndrome (BHD) caused by the frameshift deletion mutation c.1285delC in FCLN gene, was generated using synthetic mRNA. Generated 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 generated iPSCs showed normal 46, XY (CMCi009-A) respectively. In summary, we generated a novel patient-specific hiPSCs line containing the same mutation of FLCN gene and it can be used to provide additional insights for BHD pathophysiology. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ko EJ, Cui S, Shin YJ, Lim SW, Lee KI, Lee JY, Yang CW, Kim M, Chung BH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Mar;51:102215 |
| PubMed | 33540282 |
| DOI | 10.1016/j.scr.2021.102215 |