TY  - JOUR
AU  - Inglés Ferrándiz, M.
AU  - Allende Martínez, Luis Miguel
AU  - González Granado, Luis Ignacio
AU  - Eguizabal, C.
PY  - 2020
DO  - 10.1016/j.scr.2020.102082
SN  - 1873-5061
UR  - https://hdl.handle.net/20.500.14352/138098
T2  - Stem Cell Research
AB  - 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...
LA  - eng
M2  - 102082
PB  - Elsevier
KW  - APDS2
KW  - Activated PI3 kinase delta syndrome
KW  - PIK3R1
KW  - Induced pluripotent stem cells
KW  - iPSC
KW  - Fibroblasts
KW  - Stem cell line
KW  - Primary immunodeficiency
KW  - Inborn errors of immunity
KW  - PI3K delta
KW  - Cellular model
TI  - 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).
TY  - journal article
VL  - 49
ER  -