Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome

被引：7
|
作者：
Srivastava, Abhay [1 ]
Sequiera, Glen Lester [1 ]
Alagarsamy, Keshav Narayan [1 ]
Rockman-Greenberg, Cheryl [2 ]
Dhingra, Sanjiv [1 ]
机构：
[1] Univ Manitoba, Dept Physiol & Pathophysiol, Max Rady Coll Med,St Boniface Hosp,Albrechtsen Re, Inst Cardiovasc Sci,Regenerat Med Program,Rady Fa, Winnipeg, MB, Canada
[2] Univ Manitoba, Rady Fac Hlth Sci, Dept Pediat & Child Hlth, Max Rady Coll Med, Winnipeg, MB, Canada
来源：
STEM CELL RESEARCH | 2021年 / 53卷
基金：
加拿大健康研究院;
关键词：
D O I：
10.1016/j.scr.2021.102283
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Kearns-Sayre syndrome (KSS) is an ultrarare multi-organ disorder, with a frequency of similar to 1 in 100,000 individuals. KSS is characterized with (1.1-10 kilobase) deletion of a mitochondrial DNA (mtDNA). We created an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a patient with mtDNA deletion of 7.3 kilobase fragment. Heteroplasmy in PBMCs provides a novel opportunity to generate iPSC with normal mitochondrial DNA that can be used to develop patient specific cell replacement therapies in future. Hence, this unique line was created to study phenotype and therapeutic prospective of iPSC and their derivatives.
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页数：5
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