Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant
Summary
Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts from the patient's peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers. 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 5;87:103769 |
| PubMed | 40627960 |
| DOI | 10.1016/j.scr.2025.103769 |