Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant
Summary
FLI1, a member of the ETS transcription factor family, is associated with Paris-Trousseau thrombocytopenia, and germline FLI1 mutations have been identified in patients with inherited platelet disorders. We generated the iPSC line SANI011-A from a patient carrying a de novo heterozygous nonsense mutation, FLI1 c.297del. Proerythroblasts derived from the patient's peripheral blood were reprogrammed into iPSCs using the non-integrative Sendai virus (SeV) delivery method. The resulting iPSC line exhibited normal karyotype, expressed pluripotent markers, and demonstrated the capacity for trilineage differentiation. The iPSC line provides a valuable model for studying hematopoiesis, particularly megakaryopoiesis and FLI1-related platelet disorders. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhang H, Clark CC, Huisman EJ, von Lindern M, Cnossen MH, van den Akker E, Varga E |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 10;87:103771 |
| PubMed | 40669254 |
| DOI | 10.1016/j.scr.2025.103771 |