3.1.2.22 B-lymphoblastoid cell line transformed by Epstein-Barr virus 650368 3.1.2.22 blood - 650862 3.1.2.22 brain - 23913, 23915, 23916, 23917, 650368, 651451, 651455, 653243, 653345, 751572 3.1.2.22 brain expression of enzyme is developmentally regulated, with increasing expression during maturation of the CNS, reaching the maximum in young adulthood 653360 3.1.2.22 brain postmortem from patient with infantile neuronal ceroid lipofuscinosis (INCL) caused by PPT1 deficiency 693353 3.1.2.22 Caco-2 cell exclusively localized to the basolateral side of the polarized cells 651451 3.1.2.22 cerebellar granule cell neuron 751466 3.1.2.22 cerebellum - 653243 3.1.2.22 cerebellum PPT1-/- cerebella appear smaller than aged matched wild-type littermates 708433 3.1.2.22 cerebrum - 653243, 653360 3.1.2.22 embryo - 652624, 653360 3.1.2.22 epithelium - 651451 3.1.2.22 epithelium retinal 652624 3.1.2.22 eye - 652624, 653243, 653360, 710070 3.1.2.22 fibroblast normal fibroblasts and infantile neuronal ceroid lipofuscinosis fibroblasts, deficient of PPT1 707557 3.1.2.22 heart - 23913, 751572 3.1.2.22 HEK-293 cell - 23910 3.1.2.22 Hep-G2 cell - 23910 3.1.2.22 hippocampus - 653345 3.1.2.22 LAN5 cell - 23910 3.1.2.22 larva - 710070, 729768 3.1.2.22 leukocyte - 650862 3.1.2.22 liver - 751572 3.1.2.22 liver enzyme expression slowly decreases during maturation 653360 3.1.2.22 lung - 23913 3.1.2.22 lymphocyte - 707922 3.1.2.22 additional information activity is increased during neuronal maturation 652624 3.1.2.22 additional information Garland cell 710070 3.1.2.22 additional information lymphoblasts from patients with infantile neuronal ceroid lipofuscinosis, deficient of PPT1 709975 3.1.2.22 additional information Ppt1/Cln1-deficient cells 707557 3.1.2.22 additional information the enzyme expression is strictly developmentally regulated in brain and eyes but not in spleen 653243 3.1.2.22 additional information the most common mutation results in intracellular accumulationof the enzyme polypeptide and undetectable activity in the brain 23912 3.1.2.22 neuroblastoma cell - 751407 3.1.2.22 neuroepithelium - 653360 3.1.2.22 neuron - 651451, 653243, 653360 3.1.2.22 neuron hippocampal, retinal, and cortical neurons 652624 3.1.2.22 neuron pyramidal 653345 3.1.2.22 neuronal cell line primary cortical neuron culture from tissue of PPT1 knockout mice that mimic infantile neuronal ceroid lipofuscinosis 693353 3.1.2.22 oligodendroglioma cell - 23910 3.1.2.22 renal cortex - 751572 3.1.2.22 renal medulla - 751572 3.1.2.22 retina - 652624, 653243 3.1.2.22 saliva - 664616 3.1.2.22 Sertoli cell - 730430 3.1.2.22 SH-SY5Y cell - 751407 3.1.2.22 skin fibroblast - 23910 3.1.2.22 skin fibroblast very low or no activity 650862 3.1.2.22 spleen - 653243, 653360 3.1.2.22 testis - 730430