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

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

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 f...

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Main Authors: Huan Zhang, Chantal C. Clark, Elise J. Huisman, Marieke von Lindern, Marjon H. Cnossen, Emile van den Akker, Eszter Varga
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125001199
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