Article
Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A).
Stem cell research - 1 Jul 2022
Yu Quan, Mehta Atul, Zou Jizhong, Beers Jeanette, de Jesus Rasheed Adriana A, Goldbach-Mansky Raphaela, Boehm Manfred, Chen Guibin
Abstract excerpt
We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts and peripheral blood mononuclear cells from patients with a homozygous missense mutation in the gene encoding PSMB8. Biallelic loss of function mutations in this gene are responsible for the PSMB8 deficiency termed Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). The iPSC...
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