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oai:docta.ucm.es:20.500.14352/1380982026-07-07T23:51:57Zcom_20.500.14352_14col_20.500.14352_15

00925njm 22002777a 4500 dc Inglés Ferrándiz, M. author Allende Martínez, Luis Miguel author González Granado, Luis Ignacio author Eguizabal, C. author 2020-01 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. Inglés-Ferrándiz M, Martin-Inaraja M, Herrera L, Villaverde M, Santos S, Vesga MA, Garreta E, Martín-Ruiz I, Aransay AM, Anguita J, Barreña B, Allende LM, Gonzalez-Granado LI, Eguizabal C. 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). Stem Cell Res. 2020 Dec;49:102082. doi: 10.1016/j.scr.2020.102082. Epub 2020 Nov 7. 1873-5061 10.1016/j.scr.2020.102082 https://hdl.handle.net/20.500.14352/138098 https://doi.org/10.1016/j.scr.2020.102082 33221676 https://www.sciencedirect.com/science/article/pii/S1873506120303834?via%3Dihub https://pubmed.ncbi.nlm.nih.gov/33221676/ https://hdl.handle.net/2445/178023 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).