464 resources

Cell Lines SCA14

PRKCG02

Cell type
Fibroblast
Causal gene(s)
RKCG
Mutation
H36R (exon 1)
Originating lab
University of Oxford
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Cell Lines SACS/ARSACS/SPAX6

Pt1

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.5719C > T/c.12630_12634delTGAAA
Originating lab
IRCCS Stella Maris / Federico II University
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Cell Lines SACS/ARSACS/SPAX6

Pt2

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.701_702delAA/c.701_702delAA
Originating lab
IRCCS Stella Maris / Federico II University
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Cell Lines SACS/ARSACS/SPAX6

Pt3

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.8289_8291delTTC/c.10462_1043delCT
Originating lab
IRCCS Stella Maris / Federico II University
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Cell Lines SACS/ARSACS/SPAX6

Pt4

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.6166_6167delTT/c.6166_6167delTT
Originating lab
IRCCS Stella Maris / Federico II University
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Cell Lines SACS/ARSACS/SPAX6

Pt5

Cell type
Fibroblast
Causal gene(s)
SACS
Mutation
c.9268_9271delGTTA/c.11319_11321delAAG
Originating lab
IRCCS Stella Maris / Federico II University
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Mouse Models SCA21

R116C mutant TMEM-FL

Model type
Induced (AAV9 infection)
Mouse strain
C57BL/6J
Causal gene(s)
TMEM240
Mutation
AAV9 with R116C mutant TMEM-FL in cerebellar neurons
Originating lab
Kumamoto University
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Cell Lines SCA1

RCPCMi003-A

Cell type
hiPSC
Causal gene(s)
ATXN1
RRID
CVCL_UK96
Originating lab
Federal Medical Biological Agency (RCPCM)
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Cell Lines SCA17/HDL4

RCPCMi008-A

Cell type
hiPSC
Causal gene(s)
TBP
Mutation
47 CAG
RRID
CVCL_A8NA
Originating lab
Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
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Cell Lines CANVAS

RCPCMi017-A

Cell type
hiPSC
Causal gene(s)
RFC1
Originating lab
Federal State Budgetary Institution Federal research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency (RCPCM)
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Mouse Models CANVAS

RFC+/- mice

Model type
Heterozygous KO
Mouse strain
SWV/Fnn
Causal gene(s)
RFC1
Mutation
RFC1 heterozygous knockout mice
Originating lab
Texas A&M University
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Cell Lines SCA1

SCA1 1

Cell type
Fibroblast
Causal gene(s)
ATXN1
Mutation
32/50 CAG
Originating lab
Leiden University Medical Center
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Cell Lines SCA1

SCA1 2

Cell type
Fibroblast
Causal gene(s)
ATXN1
Mutation
29/46 CAG
Originating lab
Leiden University Medical Center
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Cell Lines SCA1

SCA1 3

Cell type
Fibroblast
Causal gene(s)
ATXN1
Mutation
30/51 CAG
Originating lab
Leiden University Medical Center
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Cell Lines SCA1

SCA1 4

Cell type
Fibroblast
Causal gene(s)
ATXN1
Mutation
30/47 CAG
Originating lab
Leiden University Medical Center
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Twenty Twenty-Five

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