Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917887
rs121917887
0.080 GeneticVariation BEFREE A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression. 7794272

1995

dbSNP: rs201216664
rs201216664
0.020 GeneticVariation BEFREE A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression. 7794272

1995

dbSNP: rs121912438
rs121912438
0.100 GeneticVariation BEFREE We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS. 9315720

1997

dbSNP: rs74315406
rs74315406
0.020 GeneticVariation BEFREE We developed a cell model of Gerstmann-Sträussler-Scheinker disease, a neurodegenerative condition characterized by PrPM-containing amyloid deposits and neuronal loss, by expressing the Gerstmann-Sträussler-Scheinker haplotype Q217R-129V in human neuroblastoma cells. 9353306

1997

dbSNP: rs1231783932
rs1231783932
APP
0.010 GeneticVariation BEFREE COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2. 9050898

1997

dbSNP: rs63750215
rs63750215
0.010 GeneticVariation BEFREE COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2. 9050898

1997

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10). 9751187

1998

dbSNP: rs63749805
rs63749805
0.030 GeneticVariation BEFREE Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. 9507958

1998

dbSNP: rs1211164799
rs1211164799
0.010 GeneticVariation BEFREE The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10). 9751187

1998

dbSNP: rs121917887
rs121917887
0.080 GeneticVariation BEFREE Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea. 10400630

1999

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines. 10400232

1999

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE To investigate the pathogenic mechanism of PS1 mutations linked to FAD, we established inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1(M146L or deltaexon 10) under the control of the Lac repressor. 10360683

1999

dbSNP: rs121912443
rs121912443
0.030 GeneticVariation BEFREE We have investigated the response to oxidative stress in a model system obtained by stable transfection of the human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase or a mutant of this enzyme (H46R) associated with familial amyotrophic lateral sclerosis. 10461909

1999

dbSNP: rs63749805
rs63749805
0.030 GeneticVariation BEFREE Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines. 10400232

1999

dbSNP: rs201216664
rs201216664
0.020 GeneticVariation BEFREE Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea. 10400630

1999

dbSNP: rs63750646
rs63750646
0.010 GeneticVariation BEFREE In the present study, we examined the effect of PSEN1 1143T and G384A mutations on tau phosphorylation in human SH-SY5Y and mouse Neuro-2a neuroblastoma cell lines that were transiently transfected with wild type (WT) or mutant PSEN1. 10430510

1999

dbSNP: rs74315407
rs74315407
0.010 GeneticVariation BEFREE We have established stably transfected human neuroblastoma cells (SH-SY5Y) expressing mutant V210I, or wild-type PrPc. 10454141

1999

dbSNP: rs63751163
rs63751163
0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000

dbSNP: rs74315406
rs74315406
0.020 GeneticVariation BEFREE We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP(217)) in transfected neuroblastoma cells. 10970892

2000

dbSNP: rs121917887
rs121917887
0.080 GeneticVariation BEFREE Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma. 11687967

2001

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. 11311782

2001

dbSNP: rs63749805
rs63749805
0.030 GeneticVariation BEFREE To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. 11311782

2001

dbSNP: rs63751163
rs63751163
0.020 GeneticVariation BEFREE We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations. 11746362

2001

dbSNP: rs1273925499
rs1273925499
0.010 GeneticVariation BEFREE To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. 11311782

2001

dbSNP: rs28933385
rs28933385
0.010 GeneticVariation BEFREE To investigate whether the E200K mutation is enough to de novo confer PrP(Sc) properties to mutant PrP, as suggested by experiments in Chinese hamster ovary cells, we examined the biochemical behavior of E200KPrP in brains and fibroblasts from sporadic as well as homozygous and heterozygous E200KCJD patients, asymptomatic transgenic mice carrying the E200K mutation, as well as in normal and scrapie-infected mouse neuroblastoma cells expressing E200KPrP. 11259483

2001