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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1
- Source :
- Stem Cell Research, Vol 42, Iss, Pp-(2020)
- Publication Year :
- 2019
-
Abstract
- We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 years old female patient homozygous for the mutation c.535 G > A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and differentiate into cell lineages of all three germ layers: endoderm, mesoderm and ectoderm. Keywords: Endoderm, Mesoderm, Ectoderm
- Subjects :
- 0301 basic medicine
Adult
Mesoderm
animal structures
Long QT syndrome
Induced Pluripotent Stem Cells
Ectoderm
BIO/18 - GENETICA
Germ layer
Biology
Cell Line
03 medical and health sciences
Kruppel-Like Factor 4
0302 clinical medicine
SOX2
BIO/09 - FISIOLOGIA
medicine
Humans
Induced pluripotent stem cell
lcsh:QH301-705.5
Cell Differentiation
Cell Biology
General Medicine
MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE
medicine.disease
Cell biology
Long QT Syndrome
030104 developmental biology
medicine.anatomical_structure
human induced pluripotent stem cells, long QT syndrome
lcsh:Biology (General)
embryonic structures
Female
Endoderm
Reprogramming
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....edc5b7f20d81087a1f7f4ad77ffa8e62