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

Stem cell research - 1 Oct 2021

Zheng Jie, Li Gang, Qin Maoquan

Abstract excerpt

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...

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PMID: 34496342
DOI: 10.1016/j.scr.2021.102491

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