SKIP000309 |
SKIP ID |
SKIP000309 |
Organism(En) |
- |
Organism(Ja) |
- |
Cell Type(En) |
- |
Cell Type(Ja) |
- |
Cell Tissue(En) |
- |
Cell Tissue(Ja) |
- |
Cell Origin |
Diseased |
Cell Name 1(En) |
MJD1-9 |
Cell Name 1(Ja) |
MJD1-9 |
Cell Name 2(En) |
- |
Cell Name 2(Ja) |
- |
Disease Name 1(Ja) |
脊髄小脳変性症3型/マシャド・ジョセフ病 |
ICD Code 1 |
G112 |
Disease Name 1(En) |
Spinocerebellar ataxia type 3 / Machado-Joseph disease |
OMIM1 |
109150 |
Disease Name 2(Ja) |
- |
ICD Code 2 |
- |
Disease Name 2(En) |
- |
OMIM 2 |
- |
Disease Name 3(Ja) |
- |
ICD Code 3 |
- |
Disease Name 3(En) |
- |
OMIM 3 |
- |
Age |
- |
Age Range |
30-39 |
Sex |
Male |
Race(En) |
- |
Race(Ja) |
- |
Genetic Diagnosis |
Yes |
Not Detected |
No |
Description(En) |
Human iPSC derived from SCA3 / MJD patient |
Description(Ja) |
Human iPSC derived from SCA3 / MJD patient |
Cell Morphology |
human ES-like |
Grade |
Research Grade |
Vector |
Retrovirus |
Transgene |
OCT4, SOX2, KLF4, c-MYC |
Adhesiveness |
- |
Feeder |
Yes |
Feeder Cell |
MEF |
Medium |
DMEM/F12 culture medium supplemented with 20% KnockOut Serum Replacement, 0.1mM non-essential amino acids (all from Invitrogen), 1mM L-glutamine, 0.1mM beta-mercaptoethanol and 50 ng/ml zebrafish basic fibroblast growth factor (zbFGF) |
Genome Editing |
- |
CO2 |
- |
Mycoplasma |
- |
Detection of Contaminants Mycoplasma |
- |
Pluripotent Markers |
Yes |
Pluripotent Markers Assay |
ICC |
in vitro Differentiation |
No |
in vitro Differentiation Assay |
- |
in vivo Differentiation |
Yes |
in vivo Differentiation Assay |
teratoma formation |
Other 1 Assay |
- |
Other 1 Assay Method |
- |
Other 2 Assay |
- |
Other 2 Assay Method |
- |
Other 3 Assay |
- |
Other 3 Assay Method |
- |
Karyotype |
Yes |
Karyotype Assay |
SNP analysis |
Remaining Vector Detection |
No |
Remaining Vector Detection Assay |
- |
STR |
No |
HLA |
No |
Stem Cell Transcriptome analysis |
No |
Stem Cell Transcriptome analysis Assay |
- |
Author Name(En) |
Oliver Brustle |
Author Name(Ja) |
Oliver Brustle |
Author Organization(En) |
University of Bonn and Hertie Foundation |
Author Organization(Ja) |
University of Bonn and Hertie Foundation |
Author Contact Email |
brustle[at]uni-bonn[dot]de |
PI Organization(En) |
- |
PI Organization(Ja) |
- |
PI Name(En) |
- |
PI Name(Ja) |
- |
PI Contact Email |
- |
Availability |
Information Only |
Provider Organization(En) |
University of Bonn and Hertie Foundation |
Provider Organization(Ja) |
University of Bonn and Hertie Foundation |
Provider Email |
- |
Provider URL |
- |
Ethical Statement(En) |
- |
Ethical Statement(Ja) |
- |
Terms of Use(En) |
- |
Terms of Use(Ja) |
- |
PubMed ID |
22113611 |
DOI |
10.1038/nature10671 |
Title |
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. |
Authors |
Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, Doerr J, Ladewig J, Mertens J, Tuting T, Hoffmann P, Klockgether T, Evert BO, Wullner U, Brustle O |
Journal |
Nature |
Year |
2011 |
Volume |
480 |
Issue |
7378 |
Pages |
543-6 |
URL |
http://www.ncbi.nlm.nih.gov/pubmed/22113611 |
Free input |
- |
Note |
- |