Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.
Stem Cell Res
; 17(3): 603-606, 2016 11.
Article
en En
| MEDLINE
| ID: mdl-27934591
ABSTRACT
Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies. This iPSC line will provide a powerful tool to study the biology of BSS disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Bernard-Soulier
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Complejo GPIb-IX de Glicoproteína Plaquetaria
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Células Madre Pluripotentes Inducidas
Límite:
Animals
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Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2016
Tipo del documento:
Article