SKIP000190 |
SKIP ID |
SKIP000190 |
Organism(En) |
- |
Organism(Ja) |
- |
Cell Type(En) |
- |
Cell Type(Ja) |
- |
Cell Tissue(En) |
- |
Cell Tissue(Ja) |
- |
Cell Origin |
Diseased |
Cell Name 1(En) |
GM23717 |
Cell Name 1(Ja) |
GM23717 |
Cell Name 2(En) |
- |
Cell Name 2(Ja) |
- |
Disease Name 1(Ja) |
先天性筋ジストロフィー |
ICD Code 1 |
G712 |
Disease Name 1(En) |
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
OMIM1 |
607855 |
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 |
3 |
Age Range |
0-9 |
Sex |
Female |
Race(En) |
- |
Race(Ja) |
- |
Genetic Diagnosis |
Yes |
Not Detected |
No |
Description(En) |
iPSCs derived from GM23311 Fibroblast. Sympton onset before 2 years old. maternal allele: a 2bp deletion in exon 14 of LAMA2 gene (2049_2050delAG); paternal allele: 7732C>T in exon 55 resulting prematire stop at codon 2578 (R2578X) |
Description(Ja) |
先天性筋ジストロフィーMDC1A線維芽細胞(GM23311) 由来。2歳前に発症。LAMA2遺伝子変異。 母方アリルはエクソン14に2bpの欠失(2049_2050delAG); 父方アリルはエクソン55 7732C>T置換、 2578 (R2578X)残基での停止。 |
Cell Morphology |
human ES-like |
Grade |
-- |
Vector |
Plasmid |
Transgene |
Oct4, Sox2, Klf, c-Myc, Nanog, Lin-28,T-antigen, episomal vector |
Adhesiveness |
Yes |
Feeder |
Yes |
Feeder Cell |
CF1 MEFs on 0.1% Gelatin |
Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine |
Genome Editing |
- |
CO2 |
- |
Mycoplasma |
- |
Detection of Contaminants Mycoplasma |
- |
Pluripotent Markers |
- |
Pluripotent Markers Assay |
- |
in vitro Differentiation |
- |
in vitro Differentiation Assay |
- |
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 |
46XX |
Remaining Vector Detection |
- |
Remaining Vector Detection Assay |
- |
STR |
- |
HLA |
- |
Stem Cell Transcriptome analysis |
- |
Stem Cell Transcriptome analysis Assay |
- |
Author Name(En) |
- |
Author Name(Ja) |
- |
Author Organization(En) |
- |
Author Organization(Ja) |
- |
Author Contact Email |
- |
PI Organization(En) |
NIGMS Coriell Cell Repository |
PI Organization(Ja) |
NIGMS Coriell Cell Repository |
PI Name(En) |
NIGMS Human Genetic Cell Repository |
PI Name(Ja) |
NIGMS Human Genetic Cell Repository |
PI Contact Email |
- |
Availability |
Available |
Provider Organization(En) |
NIGMS Coriell Cell Repository |
Provider Organization(Ja) |
NIGMS Coriell Cell Repository |
Provider Email |
- |
Provider URL |
http://ccr.coriell.org/Sections/Collections/NIGMS/ipsc_list.aspx?PgId=696 |
Ethical Statement(En) |
- |
Ethical Statement(Ja) |
- |
Terms of Use(En) |
- |
Terms of Use(Ja) |
- |
PubMed ID |
- |
DOI |
- |
Title |
- |
Authors |
- |
Journal |
- |
Year |
- |
Volume |
- |
Issue |
- |
Pages |
- |
URL |
- |
Free input |
- |
Note |
- |