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Title: | Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2) |
Author: | Inglés Ferrándiz, M. Martín Inaraja, M. Herrera, L. Villaverde, M. Santos, S. Vesga, M. A. Garreta, Elena Martín Ruiz, I. Aransay, A. M. Anguita, J. Barreña, B. Allende, Luis M. González Granado, Luis Ignacio Eguizabal, C. |
Keywords: | Resposta immunitària Cèl·lules mare Proliferació cel·lular Immune response Stem cells Cell proliferation |
Issue Date: | 7-Nov-2020 |
Publisher: | Elsevier B.V. |
Abstract: | APDS2 is caused by mutations in PIK3R1 gene resulting in constitutive PI3Kδ activation. PI3Kδ is predominantly expressed in leukocytes and plays critical roles in regulating immune responses. Here we first derived fibroblast primary cells from a skin biopsy of a patient carrying a heterozygous single T deletion in intron 11 of the PIK3R1 gene. We next present the derivation of an induced pluripotent stem cell (iPS) line using a non-integrative reprogramming technology. Pluripotent-related hallmarks are further shown, including: iPSCs self-renewal and expression of pluripotent and differentiation markers after in vitro differentiation towards embryonic germ layers, assessed by RT-PCR and immunofluorescence. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2020.102082 |
It is part of: | Stem Cell Research, 2020, vol. 49, p. 102082 |
URI: | http://hdl.handle.net/2445/178023 |
Related resource: | https://doi.org/10.1016/j.scr.2020.102082 |
ISSN: | 1873-5061 |
Appears in Collections: | Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia) Articles publicats en revistes (Institut de Bioenginyeria de Catalunya (IBEC)) |
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