Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24
Journal
Stem Cell Research
ISSN
1873-5061
Date Issued
2021
Author(s)
Veronika Ramovs
Christian Freund
Harald Mikkers
Christine L. Mummery
Karine Raymond
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
4 aminobutyric acid a receptor gamma3
;
amer1 protein
;
complementary dna
;
dnase2b protein
;
glyceraldehyde 3 phosphate dehydrogenase
;
huwe1 protein
;
immunoglobulin g
;
immunoglobulin g1
;
immunoglobulin g2b
;
kelch like protein 24
;
kruppel like factor 4
;
nanogp1 protein
;
octamer transcription factor 4
;
organic cation transporter 3
;
platelet endothelial cell adhesion molecule 1
;
protein
;
rmnd5a protein
;
samd13 protein
;
stage specific embryo antigen 4
;
sybr green
;
tbc1d30 protein
;
tnrc6b protein
;
transcription factor nanog
;
transcription factor sox2
;
trav3 protein
;
trav4 protein
;
unclassified drug
;
vitronectin
;
wdhd1 protein
;
adult
;
article
;
case report
;
cell differentiation
;
clinical article
;
codon
;
congestive cardiomyopathy
;
crispr-cas9 system
;
disease association
;
dna repair
;
epidermolysis bullosa simplex
;
flow cytometry
;
gene editing
;
gene mutation
;
genetic association
;
germ layer
;
heterozygosity
;
heterozygote
;
human
;
human cell
;
immunofluorescence
;
in vitro study
;
induced pluripotent stem cell
;
karyotyping
;
male
;
nuclear reprogramming
;
quantitative analysis
;
real time polymerase chain reaction
;
sanger sequencing
;
sendai virus
;
skin fibroblast
;
translation initiation