464 resources

Mouse Models MSA/OPCA

PDGF-ß-EGFP-α-Syn transgenic mouse

Model type
Transgenic
Mouse strain
C57BL/6xDBA/2 F1
Causal gene(s)
Sporadic
Mutation
expressing a stable enhanced green fluorescent protein (eGFP) tagged in the C-terminal site of a human (h)α-synuclein construct
Originating lab
University of California
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Mouse Models MSA/OPCA

PLP-α-Syn transgenic mouse

Model type
Transgenic
Mouse strain
C57Bl/6
Causal gene(s)
Sporadic
Mutation
Overexpression of human wild-type α-syn
RRID
MGI:3,604,008
Originating lab
Ludwig Maximilians University
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Cell Lines SACS/ARSACS/SPAX6

PN1

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[(Arg3636Gln;Pro3652Thr)];[Leu3745fsTer1]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN2

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Cys72fsTer4];[(Arg3636Gln;Pro3652Thr)]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN3

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Glu723fsTer15];[Phe3209fsTer46]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN4

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Leu2374Ser];[deleted_allele]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN5

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[(Gly188Glu;Ser2465Leu)];{Leu3916Trp]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN6

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.4593dupA, p.Ser1531fs*9 homozygous
Originating lab
IRCCS Ospedale San Raffaele
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Cell Lines SACS/ARSACS/SPAX6

PN6a

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Ser1531fster9];[Arg1645Ter]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN6b

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Ser1531fster9];[Arg1645Ter]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN7

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.13132C > T, p.Arg4378X homozygous
Originating lab
IRCCS Ospedale San Raffaele
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Cell Lines SACS/ARSACS/SPAX6

PN8a

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Asn1586fsTer3];[deleted_allele]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN8b

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Asn1586fsTer3];[deleted_allele]
Originating lab
University of Milan
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Cell Lines SACS/ARSACS/SPAX6

PN9

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
p.[Pro536Leu];[Arg632Trp]
Originating lab
University of Milan
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Cell Lines SCA14

PRKCG01

Cell type
Fibroblast
Causal gene(s)
RKCG
Mutation
H36R (exon 1)
Originating lab
University of Oxford
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