464 resources

Cell Lines SCA7 (unaffected family)

2

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
10/10 CAG; father from 65 CAG SCA7)
Originating lab
University of Califorania
View details →
Cell Lines SCA3

20

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
64 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

21

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
74 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

22

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
67 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

23

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
65 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

24

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
75 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

25

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
80 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA3

27

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
71 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
Cell Lines SCA7

3

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
65/10 CAG
Originating lab
University of Califorania
View details →
Cell Lines SCA12

380i

Cell type
hiPSC
Causal gene(s)
PPP2R2B
Mutation
9/10 CAG; CRISPR/Cas9n modified line from 380i-n9, -n11 (isogenic pair)
Originating lab
Johns Hopkins University
View details →
Cell Lines SCA12

380i-n9, -n11

Cell type
hiPSC
Causal gene(s)
PPP2R2B
Mutation
9/69 CAG; parental line of 380i (isogenic line)
Originating lab
Johns Hopkins University
View details →
Cell Lines SCA7 (unaffected family)

4

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
10/10 CAG; mother from 70 CAG SCA7)
Originating lab
University of Califorania
View details →
Cell Lines SCA7

41Q

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
10/41 CAG
Originating lab
University of Capetown
View details →
Cell Lines SCA7

47Q

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
10/47 CAG
Originating lab
University of Capetown
View details →
Cell Lines SCA7

5

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
30 CAG
Originating lab
University of Califorania
View details →
Mouse Models FXTAS

5’UTR FMR1 (CGG)99

Model type
Transgenic
Causal gene(s)
FMR1
Mutation
Full human FMR1 5'UTR with 99 expanded CGG expressing both CGG RNA and FMRpolyG protein
Originating lab
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)
View details →
Cell Lines SCA12

515i

Cell type
hiPSC
Causal gene(s)
PPP2R2B
Mutation
8/10 CAG; CRISPR/Cas9n modified line from 515i-n2, -n3, -n5 (isogenic pair)
Originating lab
Johns Hopkins University
View details →
Cell Lines SCA12

515i-n2, -n3, -n5

Cell type
hiPSC
Causal gene(s)
PPP2R2B
Mutation
8/56 CAG; parental line of 515i (isogenic line)
Originating lab
Johns Hopkins University
View details →
Cell Lines SCA7

6

Cell type
hiPSC
Causal gene(s)
ATXN7
Mutation
70/10 CAG
Originating lab
University of Califorania
View details →
Cell Lines SCA3

7

Cell type
Fibroblast
Causal gene(s)
ATXN3
Mutation
69 CAG
Originating lab
University Medical Center Groningen (UMCG)
View details →
1 2 3 4 24

Twenty Twenty-Five

Designed with WordPress