Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant

Abstract

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.