2026-04-17T13:42:41Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1780232025-12-04T19:03:50Zcom_2072_1057col_2072_478777col_2072_478902col_2072_478917

00925njm 22002777a 4500 dc Inglés Ferrándiz, M. author Martín Inaraja, M. author Herrera, L. author Villaverde, M. author Santos, S. author Vesga, M. A. author Garreta, Elena author Martín Ruiz, I. author Aransay, Ana M. author Anguita, J. author Barreña, B. author Allende, Luis M. author González Granado, Luis Ignacio author Eguizabal, C. author 2021-06-07T10:27:59Z 2021-06-07T10:27:59Z 2020-11-07 2021-06-07T10:27:59Z 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. Resposta immunitària Cèl·lules mare Proliferació cel·lular Immune response Stem cells Cell proliferation 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)