Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs).
Stem Cell Res
; 15(3): 595-7, 2015 Nov.
Article
em En
| MEDLINE
| ID: mdl-26987923
ABSTRACT
Poikiloderma with neutropenia (PN, Clericuzio-type poikiloderma with neutropenia) is a rare autosomal recessive disorder caused by biallelic mutations in the USB1 gene (Alias C16orf57 and MPN1). To date, there have been only 37 reported cases worldwide of this disorder that presents with neutropenia, early onset poikiloderma, respiratory infections, palmo-plantar hyperkeratosis, and skeletal defects. Here we described the generation of human induced pluripotent stem cell lines (PN1 and PN2) from the peripheral blood of a 1-year-old patient using the dox-inducible STEMCCA vector. This patient presented with bacteremia, pneumonia, and neutropenia. Analysis of bone marrow demonstrated normal cellularity with trilineage hematopoiesis and neutropenia.
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1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
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Células-Tronco Pluripotentes Induzidas
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Neutropenia
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article