Screening method for therapeutic agent for X-linked sideroblastic anemia

摘要

The present invention provides the following steps: (a) in the presence or absence of a test substance, the X-chromosome without an ALAS2 gene mutation derived from a patient with X-linked ferroblastic anemia (XLSA) is inactivated, and the ALAS2 gene is inactivated. Differentiation of stem cells having an activated X chromosome having a mutation into erythrocytes to measure differentiation efficiency, and (b) differentiation efficiency in the presence of a test substance A method for screening a therapeutic agent for X-linked ferroblastic anemia, which comprises determining that a test substance may be a therapeutic agent for X-linked ferroblastic anemia when the efficiency is higher than the efficiency .