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
Publication date
2025-09
Authors
Zhang, Huan
Clark, Chantal C.
Huisman, Elise J
von Lindern, Marieke
Cnossen, Marjon H
van den Akker, Emile
Varga, Eszter
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Abstract
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.
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Zhang, H, Clark, C C, Huisman, E J, von Lindern, M, Cnossen, M H, van den Akker, E & Varga, E 2025, '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', Stem Cell Research, vol. 87, 103769. https://doi.org/10.1016/j.scr.2025.103769