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

Summary

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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Srivastava A, Alagarsamy KN, Sequiera GL, Rockman-Greenberg C, Dhingra S
Journal Stem cell research
Publication Date 2021 Apr 18;53:102355
PubMed 33901817
DOI 10.1016/j.scr.2021.102355

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