Inglés Ferrándiz, M.Allende Martínez, Luis MiguelGonzález Granado, Luis IgnacioEguizabal, C.2026-07-072026-07-072020-01Inglés-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 7.1873-506110.1016/j.scr.2020.102082https://hdl.handle.net/20.500.14352/138098This article reports the generation and characterization of an induced pluripotent stem cell line, CVTTHi001-A, derived from primary fibroblasts obtained from a patient with activated PI3 kinase delta syndrome type 2 caused by a PIK3R1 variant. Fibroblasts were reprogrammed using a non-integrative Sendai virus approach. The resulting iPSC line showed pluripotency marker expression, self-renewal capacity and differentiation potential toward the three embryonic germ layers, providing a disease-specific cellular model for APDS2.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.engAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/journal articlehttps://doi.org/10.1016/j.scr.2020.10208233221676https://www.sciencedirect.com/science/article/pii/S1873506120303834?via%3Dihubhttps://pubmed.ncbi.nlm.nih.gov/33221676/https://hdl.handle.net/2445/178023open access612.017APDS2Activated PI3 kinase delta syndromePIK3R1Induced pluripotent stem cellsiPSCFibroblastsStem cell linePrimary immunodeficiencyInborn errors of immunityPI3K deltaCellular modelMedicinaInmunologíaPediatríaGenéticaBiología celular (Biología)Biología molecular (Biología)2412 Inmunología2409 Genética2407 Biología Celular3201 Ciencias Clínicas