Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene


Aceruloplasminemia is a rare autosomal recessive disorder caused by mutations in the CP gene, encoding the copper-binding protein ceruloplasmin. A mutation in the CP gene results in brain and systemic iron overload, which is classified as a rare subtype of neurodegeneration with brain iron accumulation (NBIA). Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells from peripheral blood mononuclear cells of a patient carrying the CP c.607+1 delG homozygous splicing mutation. The generated cell line retained the original genotype, expressed pluripotency markers, and differentiated into cells of the three germ layers. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ou-Yang CH, Lin HI, Lin CH
Journal Stem cell research
Publication Date 2022 Aug;63:102856
PubMed 35868289
DOI 10.1016/j.scr.2022.102856

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