SKIP000293 |
SKIP ID |
SKIP000293 |
Organism(En) |
- |
Organism(Ja) |
- |
Cell Type(En) |
- |
Cell Type(Ja) |
- |
Cell Tissue(En) |
- |
Cell Tissue(Ja) |
- |
Cell Origin |
Diseased |
Cell Name 1(En) |
L1-1GC2 |
Cell Name 1(Ja) |
L1-1GC2 |
Cell Name 2(En) |
- |
Cell Name 2(Ja) |
- |
Disease Name 1(Ja) |
パーキンソン病 |
ICD Code 1 |
G20 |
Disease Name 1(En) |
Parkinson's disease |
OMIM1 |
607060 |
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 |
-- |
Sex |
Female |
Race(En) |
- |
Race(Ja) |
- |
Genetic Diagnosis |
Yes |
Not Detected |
No |
Description(En) |
Gene corrected subclone of L1-1Mut (LRRK2 mutation) |
Description(Ja) |
Gene corrected subclone of L1-1Mut (LRRK2 mutation) |
Cell Morphology |
-- |
Grade |
Research Grade |
Vector |
Retrovirus |
Transgene |
OSKM |
Adhesiveness |
- |
Feeder |
-- |
Feeder Cell |
- |
Medium |
- |
Genome Editing |
G2019S - Wt correction ZFN |
CO2 |
- |
Mycoplasma |
- |
Detection of Contaminants Mycoplasma |
- |
Pluripotent Markers |
Yes |
Pluripotent Markers Assay |
Immunostaining, qRT-PCR |
in vitro Differentiation |
Yes |
in vitro Differentiation Assay |
EB-mediated differentiation |
in vivo Differentiation |
Yes |
in vivo Differentiation Assay |
Teratoma formation |
Other 1 Assay |
Yes |
Other 1 Assay Method |
differentiation into midbrain dopaminergic neuron (Immunostaining, qRT-PCR, Dopamine release) |
Other 2 Assay |
Yes |
Other 2 Assay Method |
Function of iPS cell derived neuron (6-Hydroxydopamine sensitivity, Rotenone sensitivity) |
Other 3 Assay |
Yes |
Other 3 Assay Method |
Expression of mRNA and protein |
Karyotype |
Yes |
Karyotype Assay |
microarray profiling of single-nucleotide polymorphisms |
Remaining Vector Detection |
Yes |
Remaining Vector Detection Assay |
qRT-PCR (silencing of the retroviral vectors) |
STR |
- |
HLA |
- |
Stem Cell Transcriptome analysis |
- |
Stem Cell Transcriptome analysis Assay |
- |
Author Name(En) |
Thomas Gasser |
Author Name(Ja) |
Thomas Gasser |
Author Organization(En) |
Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tubingen, and German Center for Neurodegenerative Diseases |
Author Organization(Ja) |
Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tubingen, and German Center for Neurodegenerative Diseases |
Author Contact Email |
thomas[dot]gasser[at]uni-tuebingen[dot]de |
PI Organization(En) |
- |
PI Organization(Ja) |
- |
PI Name(En) |
- |
PI Name(Ja) |
- |
PI Contact Email |
- |
Availability |
Information Only |
Provider Organization(En) |
- |
Provider Organization(Ja) |
- |
Provider Email |
- |
Provider URL |
- |
Ethical Statement(En) |
- |
Ethical Statement(Ja) |
- |
Terms of Use(En) |
- |
Terms of Use(Ja) |
- |
PubMed ID |
23472874 |
DOI |
10.1016/j.stem.2013.01.008 |
Title |
Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. |
Authors |
Reinhardt P, Schmid B, Burbulla LF, Schondorf DC, Wagner L, Glatza M, Hoing S, Hargus G, Heck SA, Dhingra A, Wu G, Muller S, Brockmann K, Kluba T, Maisel M, Kruger R, Berg D, Tsytsyura Y, Thiel CS, Psathaki OE, Klingauf J, Kuhlmann T, Klewin M, Muller H, Gasser T, Scholer HR, Sterneckert J |
Journal |
Cell Stem Cell |
Year |
2013 |
Volume |
12 |
Issue |
3 |
Pages |
354-67 |
URL |
http://www.ncbi.nlm.nih.gov/pubmed/23472874 |
Free input |
- |
Note |
- |