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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).

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dc.contributor.authorInglés Ferrándiz, M.
dc.contributor.authorAllende Martínez, Luis Miguel
dc.contributor.authorGonzález Granado, Luis Ignacio
dc.contributor.authorEguizabal, C.
dc.date.accessioned2026-07-07T10:16:09Z
dc.date.available2026-07-07T10:16:09Z
dc.date.issued2020-01
dc.descriptionThis 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.
dc.description.abstractAPDS2 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.
dc.description.departmentDepto. de Salud Pública y Materno - Infantil
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.statuspub
dc.identifier.citationInglés-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.
dc.identifier.doi10.1016/j.scr.2020.102082
dc.identifier.issn1873-5061
dc.identifier.officialurlhttps://doi.org/10.1016/j.scr.2020.102082
dc.identifier.pmid33221676
dc.identifier.relatedurlhttps://www.sciencedirect.com/science/article/pii/S1873506120303834?via%3Dihub
dc.identifier.relatedurlhttps://pubmed.ncbi.nlm.nih.gov/33221676/
dc.identifier.relatedurlhttps://hdl.handle.net/2445/178023
dc.identifier.urihttps://hdl.handle.net/20.500.14352/138098
dc.journal.titleStem Cell Research
dc.language.isoeng
dc.page.initial102082
dc.publisherElsevier
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalen
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.cdu612.017
dc.subject.keywordAPDS2
dc.subject.keywordActivated PI3 kinase delta syndrome
dc.subject.keywordPIK3R1
dc.subject.keywordInduced pluripotent stem cells
dc.subject.keywordiPSC
dc.subject.keywordFibroblasts
dc.subject.keywordStem cell line
dc.subject.keywordPrimary immunodeficiency
dc.subject.keywordInborn errors of immunity
dc.subject.keywordPI3K delta
dc.subject.keywordCellular model
dc.subject.ucmMedicina
dc.subject.ucmInmunología
dc.subject.ucmPediatría
dc.subject.ucmGenética
dc.subject.ucmBiología celular (Biología)
dc.subject.ucmBiología molecular (Biología)
dc.subject.unesco2412 Inmunología
dc.subject.unesco2409 Genética
dc.subject.unesco2407 Biología Celular
dc.subject.unesco3201 Ciencias Clínicas
dc.titleGeneration, 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).
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number49
dspace.entity.typePublication
relation.isAuthorOfPublicatione5d88590-7bbf-4d46-84aa-6f2d8c8a47ea
relation.isAuthorOfPublicationc995f37e-fed0-445f-805b-c9f886aeacfc
relation.isAuthorOfPublication.latestForDiscoverye5d88590-7bbf-4d46-84aa-6f2d8c8a47ea

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