Topics

Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene.

07:00 EST 6th November 2019 | BioPortfolio

Summary of "Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene."

Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the LMNA gene, which encodes for the lamin A/C. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene using non-integrating episomal vector technique. This iPSC line offers a useful resource to investigate pathogenic mechanisms in FPLD2, as well as a cell-based model for drug development to treat FPLD2.

Affiliation

Journal Details

This article was published in the following journal.

Name: Stem cell research
ISSN: 1876-7753
Pages: 101651

Links

DeepDyve research library

PubMed Articles [35712 Associated PubMed Articles listed on BioPortfolio]

Generation of an integration-free human induced pluripotent stem cell line MUSIi010-A from occipital scalp fibroblasts of a male patient with androgenetic alopecia.

An induced pluripotent stem cell (iPSC) line, MUSIi010-A, was established by Sendai virus (SeV) transduction of scalp fibroblasts from a 59-year-old male with androgenetic alopecia (AGA). Pluripotency...

Generation of an integration-free induced pluripotent stem cell line (FDEENTi003-A) from a patient with pathological myopia.

Pathological myopia (PM) is a major cause of irreversible vision impairment worldwide. We have successfully reprogrammed the peripheral blood mononuclear cells (PBMCs) from a PM patient to induced plu...

Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual.

Induced pluripotent stem cells (iPSCs) can be used to generate different somatic cell types in vitro, including insulin-producing pancreatic β-cells. Here, we have generated iPSCs from a healthy male...

Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3.

The induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free m...

Human induced pluripotent stem cell line HMUi001-A derived from corneal stromal cells.

A human corneal stroma induced pluripotent stem cell (HMUi001-A) line was created from primary cultured human corneal fibroblasts. Reprogramming was performed using episomal vector delivery of OCT4, S...

Clinical Trials [18294 Associated Clinical Trials listed on BioPortfolio]

Thalassemia Treatment Based on the Stem Cell Technology

In order to study the transplantation effect of hematopoetic stem cells from beta-thalassemia induced pluripotent stem cells. We applied clinical grade source of autologous hematopoietic s...

Derivation of Induced Pluripotent Stem Cells From an Existing Collection of Human Somatic Cells

Induced pluripotent stem cells potentially may be useful in the future as an unlimited source of cells for transplantation. The major goal of the project is to develop human iPS cells fro...

Molecular Mechanism Identification in Inherited Arrhythmias and Valvulopathies From Induced Pluripotent Stem Cells

The recent developments of research on iPS (induced pluripotent stem) cells lead to the establishment of mature cell lines such as cardiomyocytes or valvular interstitial cells with geneti...

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)

Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines...

Generation of an Induced Pluripotent Stem (iPS) Cell Bank Immune Matched to a Majority of the US Population

The purpose of this study is to develop a collection of iPS cells called a bank ("Bank") that are immune-matched to a large percentage of the US population by containing the most common HL...

Medical and Biotech [MESH] Definitions

Procedures used for the induction of CELLULAR REPROGRAMMING to change the terminal phenotype of a cell, such as the generation of INDUCED PLURIPOTENT STEM CELLS from differentiated adult cells by the forced expression of specific genes.

The malignant stem cells of TERATOCARCINOMAS, which resemble pluripotent stem cells of the BLASTOCYST INNER CELL MASS. The EC cells can be grown in vitro, and experimentally induced to differentiate. They are used as a model system for studying early embryonic cell differentiation.

The process that reverts CELL NUCLEI of fully differentiated somatic cells to a pluripotent or totipotent state. This process can be achieved to a certain extent by NUCLEAR TRANSFER TECHNIQUES, such as fusing somatic cell nuclei with enucleated pluripotent embryonic stem cells or enucleated totipotent oocytes. GENE EXPRESSION PROFILING of the fused hybrid cells is used to determine the degree of reprogramming. Dramatic results of nuclear reprogramming include the generation of cloned mammals, such as Dolly the sheep in 1997.

Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS.

Methods of implanting a CELL NUCLEUS from a donor cell into an enucleated acceptor cell. Often the nucleus of a somatic cell is transferred into a recipient OVUM or stem cell (STEM CELLS) with the nucleus removed. This technology may provide means to generate autologous diploid pluripotent cell for therapeutic cloning, and a model for studying NUCLEAR REPROGRAMMING in embryonic stem cells. Nuclear transfer was first accomplished with frog eggs (RANA PIPIENS) and reported in 1952.

Quick Search


DeepDyve research library

Relevant Topics

Stem Cells
Track and monitor developments in stem cell research and commercial development.  Follow the tabs above to read the latest global news, research, clinical trials on stem cells and follow companies active in the stem cell industry.  BioPort...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Article