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


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 normal karyotype, expressed pluripotency markers, showed differentiation potential. This newly iPSC line could be served as a possible tool to unravel the mechanisms underlying CLCN2-associated diseases and screen drugs for the treatment. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chen Z, Peng F, Liu J, Xie B, Xu P, Gan Z, Li M, Xu L, Zhong X
Journal Stem cell research
Publication Date 2020 May;45:101769
PubMed 32278302
DOI 10.1016/j.scr.2020.101769

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