Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene

Xinyue Bai,Xian-Jie Yang,Ling Chen

doi:10.1016/j.scr.2019.101459

Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene

Xinyue Bai, Xian-Jie Yang + Show 1 more

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https://doi.org/10.1016/j.scr.2019.101459

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Journal: Stem Cell Research	Publication Date: May 9, 2019
License type: cc-by-nc-nd

Affiliation: Eye & ENT Hospital of Fudan University, Fudan University, Chinese Academy of Medical Sciences & Peking Union Medical College, University of California, Los Angeles

#Mutation In BEST1 Gene #BEST1 Gene + Show 8 more

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Abstract

Best's disease (BD) is an inherited retinal degenerative disease caused by mutations in BEST1 gene. A human induced pluripotent stem cell (iPSC) line has been generated with integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a BD patient carrying c.888C > A mutation in BEST1 gene. This cell line may serve as a model for the study of pathogenesis of BD.

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