464 resources

Mouse Models FXTAS

Fmr1 KO mice

Model type
Knockout
Mouse strain
C57BL/6J
Causal gene(s)
FMR1
Mutation
Homozygous Fmr1 knockout
Originating lab
Erasmus University Rotterdam
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Mouse Models FXTAS

FMRP-P608L mutation mice

Model type
CRISPR/Cas9-induced mutation
Mouse strain
C57BL/6J
Causal gene(s)
FMR1
Mutation
Fmr1 missense mutation c.1823C>T (Pro608Leu)
Originating lab
The Second Affiliated Hospital of Guangzhou Medical University
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Cell Lines SCA28

G671R

Cell type
Fibroblast
Causal gene(s)
AFG3L2
Mutation
p.G671R
Originating lab
IRCCS Ospedale San Raffaele
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Mouse Models FXTAS

Gfa2-CGG99-eGFP mice

Model type
Transgenic
Mouse strain
C57BL/6J
Causal gene(s)
FMR1
Mutation
Human expanded CGG99 trinucleotide repeat segment
Originating lab
University of California
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Cell Lines SCA7

GM03561

Cell type
Fibroblast
Causal gene(s)
ATXN7
Mutation
8/62 CAG
RRID
CVCL_AX22
Originating lab
Coriell Institute
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Cell Lines SCA3

GM06151

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
24/74
RRID
CVCL_7451
Originating lab
Coriell Institute
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Cell Lines SCA3

GM06153

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
23/71 CAG
RRID
CVCL_7452
Originating lab
Coriell Institute
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Cell Lines SCA1

GM06927

Cell type
Fibroblast
Causal gene(s)
ATXN1
Mutation
29/52 CAG
RRID
CVCL_T904
Originating lab
Coriell Institute
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Cell Lines SCA3

GZHMCi009-A

Cell type
hiPSC
Causal gene(s)
ATXN3
Mutation
14/74 CAG
RRID
CVCL_C0IB
Originating lab
Third affiliated Hospital of Guangzhou Medical University
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Cell Lines SCA3

GZHMCi010-A

Cell type
hiPSC
Causal gene(s)
ATXN3
Mutation
14/74 CAG
RRID
CVCL_C0IC
Originating lab
Third affiliated Hospital of Guangzhou Medical University
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Cell Lines SCA3

GZHMCi011-A

Cell type
hiPSC
Causal gene(s)
ATXN3
Mutation
14/63 CAG
RRID
CVCL_D0F5
Originating lab
Third affiliated Hospital of Guangzhou Medical University
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Cell Lines SCA2

H196 clone 7

Cell type
hiPSC
Causal gene(s)
ATXN2
Mutation
22/36 CAG
RRID
CVCL_AB81
Originating lab
University of Copenhagen and Bioneer A/S
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Cell Lines AOA1

H201P-iPSC

Cell type
hiPSC
Causal gene(s)
APTX
Mutation
c.602A>C (heterozygous); CRISPR/Cas9 modified from control
Originating lab
Southern Medical University
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Cell Lines AOA1

H201R-iPSC

Cell type
hiPSC
Causal gene(s)
APTX
Mutation
c.602A>G (heterozygous); CRISPR/Cas9 modified from control
Originating lab
Southern Medical University
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Cell Lines SCA3

H241

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
23/83 CAG
Originating lab
University of Copenhagen
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Cell Lines SCA3

H249

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
14/74 CAG
Originating lab
University of Copenhagen
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Cell Lines SCA2

H266 clone 10

Cell type
hiPSC
Causal gene(s)
ATXN2
Mutation
44/22 CAG
RRID
CVCL_AB82
Originating lab
University of Copenhagen and Bioneer A/S
View details →
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