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Cell Lines SCA7

SCA7 10Q

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
10 CAG induced from ATXN7 KO
Originating lab
University of Califorania
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Cell Lines SCA7

SCA7 113Q

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
113 CAG induced from ATXN7 KO
Originating lab
University of Califorania
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Cell Lines SCA7

SCA7 KO

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
ATXN7 Knock-out
Originating lab
University of Califorania
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Cell Lines SCA6

SCD16

Cell type
hiPSC
Causal gene(s)
CACNA1A
Mutation
22/12 CAG
RRID
CVCL_RJ10
Originating lab
RIKEN Center for Developmental Biology
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Cell Lines SCA6

SCD162

Cell type
Fibroblast
Causal gene(s)
CACNA1A
Mutation
23/23 CAG
Originating lab
RIKEN Center for Developmental Biology
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Cell Lines SCA6

SCD162-6-2,13-2,17-2

Cell type
hiPSC
Causal gene(s)
CACNA1A
Mutation
23/23 CAG
RRID
CVCL_RJ04, CVCL_RJ05, CVCL_RJ06
Originating lab
RIKEN Center for Developmental Biology
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Cell Lines SCA6

SCD166

Cell type
Fibroblast
Causal gene(s)
CACNA1A
Mutation
26/14 CAG
Originating lab
RIKEN Center for Developmental Biology
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Cell Lines SCA6

SCD166-2-3,2-14,2-16

Cell type
hiPSC
Causal gene(s)
CACNA1A
Mutation
26/14 CAG
RRID
CVCL_RJ07, CVCL_RJ08, CVCL_RJ09
Originating lab
RIKEN Center for Developmental Biology
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Mouse Models AOA2/SCAN2/SCAR1

Setx-/-

Model type
Knockout
Mouse strain
C57BL6 and 129Sv
Causal gene(s)
SETX
Mutation
Homozygous Setx knock-out mice
Originating lab
University of Queensland
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Cell Lines SACS/ARSACS/SPAX6

SK.01AiPS

Cell type
hiPSC
Causal gene(s)
SACS
Mutation
c.9284dupC (homozygous)
Originating lab
Obtained from: McGill University
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Cell Lines SACS/ARSACS/SPAX6

SK10A

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.9248dupC/p.Ala3096Cysfs*2
Originating lab
Obtained from: Queen Mary University of London
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Cell Lines SCA12

SN-2C

Cell type
hiPSC
Causal gene(s)
PPP2R2B
Mutation
73/14 CAG; CRISPR/Cas9n modified line from CS25i-18n2 / SN-2 (isogenic pair)
Originating lab
Johns Hopkins University
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Mouse Models SPG7

Spg7-/- mice

Model type
Knockout
Mouse strain
C57BL/6-129Sv
Causal gene(s)
SPG7
Mutation
Spg7 homozygous knockout
Originating lab
Telethon Institute of Genetics and Medicine
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Cell Lines FXTAS

SZ-FX10

Cell type
hESC
Causal gene(s)
FMR1
Mutation
>58 and <200 CGG (heterozygous; premutation carrier)
RRID
CVCL_Y331
Originating lab
Shaare Zedek Medical Center (SZMC)
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Cell Lines FXTAS

SZ-FX11

Cell type
hESC
Causal gene(s)
FMR1
Mutation
>58 CGG (premutation carrier)
RRID
CVCL_YL34
Originating lab
Shaare Zedek Medical Center (SZMC)
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Cell Lines FXTAS

SZ-FX13

Cell type
hESC
Causal gene(s)
FMR1
Mutation
>58 CGG (premutation carrier)
RRID
CVCL_YL36
Originating lab
Shaare Zedek Medical Center (SZMC)
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Cell Lines FXTAS

SZ-FX16

Cell type
hESC
Causal gene(s)
FMR1
Mutation
>58 CGG (premutation carrier)
RRID
CVCL_YL38
Originating lab
Shaare Zedek Medical Center (SZMC)
View details →
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