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 from...

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Autores principales:	Huan Zhang, Chantal C. Clark, Elise J. Huisman, Marieke von Lindern, Marjon H. Cnossen, Emile van den Akker, Eszter Varga
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 2025-09-01
Colección:	Stem Cell Research
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S1873506125001199
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