2026-08-22T18:48:07Zhttps://docta.ucm.es/rest/oai/requestoai:docta.ucm.es:20.500.14352/1380982026-07-07T23:51:57Zcom_20.500.14352_14col_20.500.14352_15
Inglés Ferrándiz, M.
Allende Martínez, Luis Miguel
González Granado, Luis Ignacio
Eguizabal, C.
2026-07-07T10:16:09Z
2026-07-07T10:16:09Z
2020-01
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
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.
eng
http://creativecommons.org/licenses/by-nc-nd/4.0/
open access
Attribution-NonCommercial-NoDerivatives 4.0 International
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).
journal article