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464 resources

Name / ID Type Disease RRID Causal gene(s) Mutation Originating lab
PN5 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[(Gly188Glu;Ser2465Leu)];{Leu3916Trp] University of Milan
PN6 Cell Lines SACS/ARSACS/SPAX6 — SACS c.4593dupA, p.Ser1531fs*9 homozygous IRCCS Ospedale San Raffaele
PN6a Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Ser1531fster9];[Arg1645Ter] University of Milan
PN6b Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Ser1531fster9];[Arg1645Ter] University of Milan
PN7 Cell Lines SACS/ARSACS/SPAX6 — SACS c.13132C > T, p.Arg4378X homozygous IRCCS Ospedale San Raffaele
PN8a Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Asn1586fsTer3];[deleted_allele] University of Milan
PN8b Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Asn1586fsTer3];[deleted_allele] University of Milan
PN9 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Pro536Leu];[Arg632Trp] University of Milan
PRKCG01 Cell Lines SCA14 — RKCG H36R (exon 1) University of Oxford
PRKCG01-1 and PRKCG01-18 Cell Lines SCA14 — RKCG H36R (exon 1) University of Oxford
PRKCG02 Cell Lines SCA14 — RKCG H36R (exon 1) University of Oxford
PRKCG02-03 and PRKCG02-12 Cell Lines SCA14 — RKCG H36R (exon 1) University of Oxford
Pt1 Cell Lines SACS/ARSACS/SPAX6 — SACS c.5719C > T/c.12630_12634delTGAAA IRCCS Stella Maris / Federico II University
Pt2 Cell Lines SACS/ARSACS/SPAX6 — SACS c.701_702delAA/c.701_702delAA IRCCS Stella Maris / Federico II University
Pt3 Cell Lines SACS/ARSACS/SPAX6 — SACS c.8289_8291delTTC/c.10462_1043delCT IRCCS Stella Maris / Federico II University
Pt4 Cell Lines SACS/ARSACS/SPAX6 — SACS c.6166_6167delTT/c.6166_6167delTT IRCCS Stella Maris / Federico II University
Pt5 Cell Lines SACS/ARSACS/SPAX6 — SACS c.9268_9271delGTTA/c.11319_11321delAAG IRCCS Stella Maris / Federico II University
R116C mutant TMEM-FL Mouse Models SCA21 — TMEM240 AAV9 with R116C mutant TMEM-FL in cerebellar neurons Kumamoto University
RCPCMi003-A Cell Lines SCA1 CVCL_UK96 ATXN1 — Federal Medical Biological Agency (RCPCM)
RCPCMi008-A Cell Lines SCA17/HDL4 CVCL_A8NA TBP 47 CAG Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
RCPCMi017-A Cell Lines CANVAS — RFC1 — Federal State Budgetary Institution Federal research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency (RCPCM)
RFC+/- mice Mouse Models CANVAS — RFC1 RFC1 heterozygous knockout mice Texas A&M University
SCA1 1 Cell Lines SCA1 — ATXN1 32/50 CAG Leiden University Medical Center
SCA1 2 Cell Lines SCA1 — ATXN1 29/46 CAG Leiden University Medical Center
SCA1 3 Cell Lines SCA1 — ATXN1 30/51 CAG Leiden University Medical Center
SCA1 4 Cell Lines SCA1 — ATXN1 30/47 CAG Leiden University Medical Center
SCA1 A-3, 21, 26 Cell Lines SCA1 — ATXN1 26/46-47 CAG Tokyo Medical and Dental University
SCA1 B-8, 17, 37 Cell Lines SCA1 — ATXN1 29/44-47 CAG Tokyo Medical and Dental University
SCA10 (~1000 repeats) Cell Lines SCA10 — ATXN10 ~1000 ATTCT repeats University of Texas
SCA10 (~2000 repeats) Cell Lines SCA10 — ATXN10 ~2000 ATTCT repeats University of Texas
SCA14-1 Cell Lines SCA14 — RKCG H101Q (exon 4) University of Oxford
SCA14-1-1 and SCA14-1-10 Cell Lines SCA14 — RKCG H101Q (exon 4) University of Oxford
SCA14-2 Cell Lines SCA14 — RKCG H101Q (exon 4) University of Oxford
SCA14-2-2 and SCA14-2-14 Cell Lines SCA14 — RKCG H101Q (exon 4) University of Oxford
SCA2-1 Cell Lines SCA2 — ATXN2 35/22 CAG Academia Sinica
SCA2-2 Cell Lines SCA2 — ATXN2 — Brigham and women's Hospital
SCA3-001-iPSC Cell Lines SCA3 — ATXN3 31/74 CAG Xiangya Hospital of Central South University
SCA3-1 Cell Lines SCA3 — ATXN3 66 CAG Chang Gung University College of Medicine
SCA3-2 Cell Lines SCA3 — ATXN3 68 CAG Chang Gung University College of Medicine
SCA3-3 Cell Lines SCA3 — ATXN3 27/69 CAG University Medical Center Groningen (UMCG)
SCA3-C12-iPSC Cell Lines SCA3 — ATXN3 31/17 CAG Xiangya Hospital of Central South University
SCA3-C3-iPSC Cell Lines SCA3 — ATXN3 31/17 CAG Xiangya Hospital of Central South University
SCA3-GE (genome-edited) Cell Lines SCA3 — ATXN3 WT First affiliated Hospital of Zhengzhou University
SCA3-iPS-1 Cell Lines SCA3 — ATXN3 81 CAG Third affiliated Hospital of Guangzhou Medical University
SCA3-iPS-2 Cell Lines SCA3 — ATXN3 81 CAG Third affiliated Hospital of Guangzhou Medical University
SCA3-iPSC Cell Lines SCA3 — ATXN3 26/78 CAG Third affiliated Hospital of Guangzhou Medical University
SCA3.A8, A11 Cell Lines SCA3 CVCL_VE47, CVCL_DQ98 ATXN3 23/83 CAG University of Copenhagen
SCA3.B1, B11 Cell Lines SCA3 CVCL_VF01, CVCL_DQ99 ATXN3 14/74 CAG University of Copenhagen
SCA6-1 Cell Lines SCA6 — CACNA1A 13/23 CAG Medical University of Innsbruck
SCA6-2 Cell Lines SCA6 — CACNA1A 14/23 CAG Medical University of Innsbruck
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