TY - JOUR AU - Lopez-Onieva, Lourdes AU - Lamolda, Mar AU - Montes, Rosa AU - Lozano, Maria Luisa AU - Vicente, Vicente AU - Rivera, José AU - Ramos-Mejía, Verónica AU - Real, Pedro J PY - 2017 DO - 10.1016/j.scr.2017.02.001 UR - http://hdl.handle.net/10668/11077 T2 - Stem cell research AB - Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from... LA - en KW - Base Sequence KW - Bernard-Soulier Syndrome KW - Cell Differentiation KW - Cell Line KW - Cellular Reprogramming KW - DNA Mutational Analysis KW - Embryoid Bodies KW - Female KW - Homozygote KW - Humans KW - Induced Pluripotent Stem Cells KW - Karyotype KW - Leukocytes, Mononuclear KW - Platelet Glycoprotein GPIb-IX Complex KW - Polymorphism, Single Nucleotide KW - Tandem Repeat Sequences KW - Transcription Factors TI - Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene. TY - research article VL - 20 ER -