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Induced pluripotent stem cell line reveals mechanisms of thrombocytopenia and leukemia predisposition in ETV6 mutation carriers, suggesting new research avenues.
MULi001-A is a human induced pluripotent stem cell line derived from urinary tract epithelial cells of a patient carrying a heterozygous germline ETV6 p.Pro214Leu mutation associated with Thrombocytopenia 5 and leukemia predisposition. Pluripotency was confirmed by colony morphology, expression of canonical pluripotency markers, maintenance of a normal karyotype, and trilineage differentiation capacity. This line provides a cellular resource for studying ETV6-related hematopoietic disorders and malignant transformations.
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Mazurek et al. (2026) studied this question.
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