Generation of induced pluripotent stem cell, BCHSCTi001-A, derived from a Hemophilia A patient with F8 (p. R391C) mutation

Summary

F8 is the defective gene of Hemophilia A (HA). The F8 genotype correlates well with the clinical phenotype in most cases. However, phenotypic variation has been found in some rare cases with patients who have the same genotype. In this study, we generatedinduced pluripotent stem cells (iPSCs) from a Hemophilia A patient with F8 (p. R391C) mutation. The clinical phenotype of this patient is moderate, compared to the more severe phenotypes found in other patients. This iPSCs line could be used as a valuable diseased cell model for gene therapy and will facilitate future mechanism research. Copyright © 2021. Published by Elsevier B.V.

Authors Zheng J, Li G, Qin M
Journal Stem cell research
Publication Date 2021 Aug 5;56:102491
PubMed 34496342
DOI 10.1016/j.scr.2021.102491

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