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Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome

Stem Cell Res. 2021-04;

Abhay Srivastava, Keshav Narayan Alagarsamy, Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra

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Recombinant Proteins	… The cells were mounted on slides with mounting agent containing DAPI. Ti2 Eclipse florescent microscope was used to capture images using NIS elements advance research software?… Neuronal marker, β-Tubulin-IIIRabbit pAb, 1:500, GenScript Cat# A01203; RRID:AB_1289179?…	Get A Quote

摘要

Induced pluripotent stem cell (iPSC) line was derived from peripheral blood mononuclear cells (PBMCs) of a Kearns-Sayre syndrome (KSS) patient with mtDNA deletion of 4.8 kilobase fragment. KSS is an ultrarare multi-organ disorder and is characterized with (1.1 to 10 kilobase) deletion of mitochondrial DNA (mtDNA) with a frequency of ~1 in 100,000 individuals. Heteroplasmy in PBMCs allowed us to generate an iPSC line with normal mitochondrial DNA that can be used to study therapeutic prospective of iPSC and their derivatives and design future cell replacement therapies.