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)

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...

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Autori principali:	Quan Yu, Atul Mehta, Jizhong Zou, Jeanette Beers, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2022-07-01
Serie:	Stem Cell Research
Accesso online:	http://www.sciencedirect.com/science/article/pii/S1873506122001696
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