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)

M Inglés-Ferrándiz; M Martin-Inaraja; L Herrera; M Villaverde; S Santos; M A Vesga; E Garreta; I Martín-Ruiz; A M Aransay; J Anguita; B Barreña; L M Allende; L I Gonzalez-Granado; C Eguizabal

doi:10.1016/j.scr.2020.102082

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.

Authors

M Inglés-Ferrándiz¹, M Martin-Inaraja¹, L Herrera¹, M Villaverde¹, S Santos¹, M A Vesga¹, E Garreta², I Martín-Ruiz³, A M Aransay⁴, J Anguita⁵, B Barreña⁶, L M Allende⁷, L I Gonzalez-Granado⁸, C Eguizabal⁹

Affiliations

¹ Cell Therapy, Stem Cells and Tissues Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain; Research Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain.
² Pluripotency for Organ Regeneration, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain. University of Barcelona, Barcelona, Spain.
³ Inflammation and Macrophage Plasticity Laboratory, CIC bioGUNE-BRTA (Basque Research and Technology Alliance), Derio 48160, Spain.
⁴ Genomic Analysis Platform, CIC bioGUNE-BRTA, Derio, 48160, Spain; CIBERehd, Instituto de Salud Carlos III, Madrid 28029, Spain.
⁵ Inflammation and Macrophage Plasticity Laboratory, CIC bioGUNE-BRTA (Basque Research and Technology Alliance), Derio 48160, Spain; Ikerbasque, Basque Foundation for Science, Bilbao 48013, Spain.
⁶ Genetics Unit, Hospital de Basurto, Bilbao, Spain.
⁷ Immunology Department, University Hospital 12 de Octubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), School of Medicine, University Hospital 12 de Octubre, Complutense University of Madrid, Madrid, Spain.
⁸ Primary Immunodeficiencies Unit, Pediatrics, Hospital 12 Octubre (imas12), Complutense University School of Medicine, Madrid, Spain.
⁹ Cell Therapy, Stem Cells and Tissues Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain; Research Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain. Electronic address: [email protected].

PMID: 33221676
DOI: 10.1016/j.scr.2020.102082

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cell Line*
Class I Phosphatidylinositol 3-Kinases / genetics
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Mutation
Primary Immunodeficiency Diseases / genetics*

Substances

Class I Phosphatidylinositol 3-Kinases

Supplementary concepts

Activated PI3K-delta Syndrome