SKIP000702 |
SKIP ID |
SKIP000702 |
Organism(En) |
- |
Organism(Ja) |
- |
Cell Type(En) |
- |
Cell Type(Ja) |
- |
Cell Tissue(En) |
- |
Cell Tissue(Ja) |
- |
Cell Origin |
Diseased |
Cell Name 1(En) |
D1-6 |
Cell Name 1(Ja) |
D1-6 |
Cell Name 2(En) |
- |
Cell Name 2(Ja) |
- |
Disease Name 1(Ja) |
乳児重症ミオクロニーてんかん |
ICD Code 1 |
G40.4 |
Disease Name 1(En) |
Dravet syndrome |
OMIM1 |
607208 |
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 |
21 |
Age Range |
20-29 |
Sex |
Female |
Race(En) |
- |
Race(Ja) |
- |
Genetic Diagnosis |
Yes |
Not Detected |
No |
Description(En) |
Disease specific iPSC line derived from Dravet syndrome patient. A nonsense mutation in SCN1A (c.4933C>T) is found in blood leukocyte-extracted genomic DNA. Human iPSCs were established via the retroviral transduction of four reprograming factors (Sox2, Klf4, Oct3/4, and c-Myc) into skin fibroblasts. |
Description(Ja) |
Dravet症候群患者由来の疾患特異的iPS細胞.SCN1A遺伝子点変異4933C>T |
Cell Morphology |
human ES-like |
Grade |
Research Grade |
Vector |
Retrovirus |
Transgene |
Sox2, Klf4, Oct3/4, c-Myc |
Adhesiveness |
- |
Feeder |
Yes |
Feeder Cell |
mitomycin C-treated SNL feeder |
Medium |
standard hESC medium (Dulbecco's modified Eagle's medium [DMEM]/F12 [Sigma] containing 20% KnockOut serum replacement [KSR; Life Technologies], nonessential amino acids [NEAA], 0.1 mM 2-mercaptoethanol [Sigma], and 4 ng/ml fibroblast growth factor 2 [FGF-2] [PeproTech]) |
Genome Editing |
- |
CO2 |
- |
Mycoplasma |
- |
Detection of Contaminants Mycoplasma |
- |
Pluripotent Markers |
Yes |
Pluripotent Markers Assay |
Immunostaining |
in vitro Differentiation |
- |
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 |
G-band karyotyping |
Remaining Vector Detection |
- |
Remaining Vector Detection Assay |
- |
STR |
- |
HLA |
- |
Stem Cell Transcriptome analysis |
- |
Stem Cell Transcriptome analysis Assay |
- |
Author Name(En) |
Norimichi Higurashi |
Author Name(Ja) |
日暮憲道 |
Author Organization(En) |
Department of Pediatrics, Jikei University School of Medicine |
Author Organization(Ja) |
東京慈恵医科大学 |
Author Contact Email |
- |
PI Organization(En) |
Department of Pediatrics, Fukuoka University School of Medicine |
PI Organization(Ja) |
福岡大学医学部 |
PI Name(En) |
Shinichi Hirose |
PI Name(Ja) |
廣瀬伸一 |
PI Contact Email |
- |
Availability |
Available |
Provider Organization(En) |
Department of Pediatrics, Fukuoka University School of Medicine |
Provider Organization(Ja) |
福岡大学医学部小児科 |
Provider Email |
- |
Provider URL |
http://fukudai-shounika.net/index.php |
Ethical Statement(En) |
- |
Ethical Statement(Ja) |
- |
Terms of Use(En) |
- |
Terms of Use(Ja) |
- |
PubMed ID |
23639079 |
DOI |
10.1186/1756-6606-6-19 |
Title |
A human Dravet syndrome model from patient induced pluripotent stem cells. |
Authors |
Higurashi N, Uchida T, Lossin C, Misumi Y, Okada Y, Akamatsu W, Imaizumi Y, Zhang B, Nabeshima K, Mori MX, Katsurabayashi S, Shirasaka Y, Okano H, Hirose S |
Journal |
Mol Brain |
Year |
2013 |
Volume |
6 |
Issue |
- |
Pages |
19 |
URL |
http://www.ncbi.nlm.nih.gov/pubmed/23639079 |
Free input |
- |
Note |
- |