Generation of a human induced pluripotent stem cell line, YCMi002-A, from a Factor VII deficiency patient carrying F7 mutations
Summary
Factor VII (FVII) deficiency is the most common among the rare bleeding disorders, which is caused by mutations in coagulation factor VII. Clinical features caused by FVII deficiency vary from mild or asymptomatic to fatal cerebral hemorrhage. We generated an induced pluripotent stem cell (iPSC) line, YCMi002-A, from FVII deficiency patient-derived fibroblasts. YCMi002-A cells are characterized by novel compound heterozygous mutations. The c.345C > A; p.C115X is well known and the second one, c.1276C > T; p.Q426X, remains novel. YCMi002-A cells may help researchers to understand correlation between these mutations and the symptoms of FVII deficiency. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Kim DH, Park CY, Cho SR, Kim DW |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102026 |
| PubMed | 33038747 |
| DOI | 10.1016/j.scr.2020.102026 |