SKIP001131
SKIP ID SKIP001131
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Normal→Genome editing
Cell Name 1(En) FUS H517D/H517D-3
Cell Name 1(Ja) FUS H517D/H517D-3
Cell Name 2(En) 409B2_FUS(H517D)11-Cr5
Cell Name 2(Ja) 409B2_FUS(H517D)11-Cr5
Disease Name 1(Ja) 家族性筋萎縮性側索硬化症
ICD Code 1 G12.2
Disease Name 1(En) Familial amyotrophic lateral sclerosis
OMIM1 137070
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 Female
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) Grandparental iPS Cell line (409B2) was derived from skin fibroblast. Gene mutation: homozygotic FUS point mutation (H517D) was introduced by TALEN-mediated genome editing. PGK-PuroTK cassette at intron left in parental iPS cell line (ho-FUS-H517D-409B2-0) was removed by transient expression of Cre recombinase.
Description(Ja) 健常人由来iPS細胞株(409B2)にFUS遺伝子点変異(H517D)をホモで導入したもの。親株(ho-FUS-H517D-409B2-0)では、intronに残存していたPGK-PuroTKカセットは、Cre組換え酵素のアデノウイルスベクターによる一過性発現により除かれloxP配列のみが残っている。
Cell Morphology human ES-like
Grade --
Vector Plasmid
Transgene Episomal vector, pCXLE-Oct3/4, Sox2, Klf4, L-Myc, Lin28, p53 shRNA
KI vector, loxP-PGK-PuroTK-loxP
Adhesiveness -
Feeder No
Feeder Cell -
Medium AK03
Genome Editing TALEN, PGK-PuroTK donor DNA, AdCre
CO2 5%
Mycoplasma -
Detection of Contaminants Mycoplasma -
Pluripotent Markers -
Pluripotent Markers Assay -
in vitro Differentiation Yes
in vitro Differentiation Assay Motor neuron differentiation
in vivo Differentiation -
in vivo Differentiation Assay -
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 Giemsa banding
Remaining Vector Detection -
Remaining Vector Detection Assay -
STR -
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) Hideyuki Okano
Author Name(Ja) 岡野栄之
Author Organization(En) Department of Physiology, Keio University School of Medicine
Author Organization(Ja) 慶應義塾大学医学部生理学教室
Author Contact Email hidokano[at]a2[dot]keio[dot]jp
PI Organization(En) Department of Physiology, Keio University School of Medicine
PI Organization(Ja) 慶應義塾大学医学部生理学教室
PI Name(En) Hideyuki Okano
PI Name(Ja) 岡野栄之
PI Contact Email hidokano[at]a2[dot]keio[dot]jp
Availability Information Only
Provider Organization(En) Department of Physiology, Keio University School of Medicine
Provider Organization(Ja) 慶應義塾大学医学部生理学教室
Provider Email hidokano[at]a2[dot]keio[dot]jp
Provider URL -
Ethical Statement(En) -
Ethical Statement(Ja) -
Terms of Use(En) -
Terms of Use(Ja) -
PubMed ID 26997647
DOI 10.1016/j.stemcr.2016.02.011
Title Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells.
Authors Ichiyanagi N, Fujimori K, Yano M, Ishihara-Fujisaki C, Sone T, Akiyama T, Okada Y, Akamatsu W, Matsumoto T, Ishikawa M, Nishimoto Y, Ishihara Y, Sakuma T, Yamamoto T, Tsuiji H, Suzuki N, Warita H, Aoki M, Okano H
Journal Stem Cell Reports
Year 2016
Volume 6
Issue 4
Pages 496-510
URL http://www.ncbi.nlm.nih.gov/pubmed/26997647
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