Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation


Netherton syndrome (NS) is a rare, autosomal recessive hereditary skin disease caused by mutations in SPINK5 gene, characterized with severe skin barrier damage. A human induced pluripotent stem cell (iPSC) line has been established with electroporation method from urine-derived cells of a NS patient carrying a compound heterozygous mutation c.2260A > T (p.K754X) and c.2423C > T(p.T808I) in SPINK5 gene. This iPSC line may serve as a valuable model for the research of pathogenesis of NS, and the mechanisms and therapeutics for skin barrier damage. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Xu M, Wang L, Yin J, Xiong J, Guo Q, Yang W
Journal Stem cell research
Publication Date 2021 Mar;51:102213
PubMed 33556917
DOI 10.1016/j.scr.2021.102213

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