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Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy.

Stem cell research - 1 May 2020

Chen Zhuolin, Peng Fuhua, Liu Jia, Xie Bingbing, Xu Ping, Gan Zhouqing, Li Min, Xu Li, Zhong Xiufeng

Abstract excerpt

CLCN2-related leukoencephalopathy (CC2L) is a rare disease due to autosomal recessive loss-of-function mutations in CLCN2 gene. We generated an induced pluripotent stem cell (iPSC) line (SKLOi001-A) from urine cells isolated from a CC2L patient carrying a homozygotic mutation: c.2257C>T (p.Arg753*) in CLCN2 gene via an integration-free methods. The established iPSC line kept the CLCN2 mutation and displayed a...

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PMID: 32278302
DOI: 10.1016/j.scr.2020.101769

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