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Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). 2017

Daryeon Son, and Zhejiu Quan, and Phil Jun Kang, and Gyuman Park, and Hoon-Chul Kang, and Seungkwon You
Laboratory of Cell Function Regulation, Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Republic of Korea.

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with adrenomyeloneuropathy (AMN) by Sendai virus containing OCT4, SOX2, KLF4 and c-MYC. Established iPSC lines expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained ABCD1 mutation.

UI MeSH Term Description Entries
D007150 Immunohistochemistry Histochemical localization of immunoreactive substances using labeled antibodies as reagents. Immunocytochemistry,Immunogold Techniques,Immunogold-Silver Techniques,Immunohistocytochemistry,Immunolabeling Techniques,Immunogold Technics,Immunogold-Silver Technics,Immunolabeling Technics,Immunogold Silver Technics,Immunogold Silver Techniques,Immunogold Technic,Immunogold Technique,Immunogold-Silver Technic,Immunogold-Silver Technique,Immunolabeling Technic,Immunolabeling Technique,Technic, Immunogold,Technic, Immunogold-Silver,Technic, Immunolabeling,Technics, Immunogold,Technics, Immunogold-Silver,Technics, Immunolabeling,Technique, Immunogold,Technique, Immunogold-Silver,Technique, Immunolabeling,Techniques, Immunogold,Techniques, Immunogold-Silver,Techniques, Immunolabeling
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D005434 Flow Cytometry Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake. Cytofluorometry, Flow,Cytometry, Flow,Flow Microfluorimetry,Fluorescence-Activated Cell Sorting,Microfluorometry, Flow,Cell Sorting, Fluorescence-Activated,Cell Sortings, Fluorescence-Activated,Cytofluorometries, Flow,Cytometries, Flow,Flow Cytofluorometries,Flow Cytofluorometry,Flow Cytometries,Flow Microfluorometries,Flow Microfluorometry,Fluorescence Activated Cell Sorting,Fluorescence-Activated Cell Sortings,Microfluorimetry, Flow,Microfluorometries, Flow,Sorting, Fluorescence-Activated Cell,Sortings, Fluorescence-Activated Cell
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000074063 ATP Binding Cassette Transporter, Subfamily D, Member 1 ATP-binding cassette transporter that functions in the import of long chain (13-21 carbons) and very long chain fatty acids (> 22 carbons), or their acyl-CoA-derivatives, into PEROXISOMES. Mutations in the ABCD1 gene are associated with the X-linked form of ADRENOLEUKODYSTROPHY. ABCD1 Protein,ABCD1 Transporter,ATP Binding Cassette Transporter, Sub-Family D, Member 1,Adrenoleukodystrophy Protein
D000090062 Kruppel-Like Factor 4 A member of zinc finger-containing transcription factors that belongs to the KRUPPEL-LIKE FACTOR family, involved in the regulation of diverse cellular processes such as cell growth, proliferation, differentiation, and APOPTOSIS. EZF Protein,Endothelial Kruppel-Like Zinc Finger Protein,Epithelial Zinc Finger Protein,GKLF Protein,Gut-Enriched Kruppel-Like Factor,Klf4 Protein,Krueppel-Like-Factor 4,4, Krueppel-Like-Factor,4, Kruppel-Like Factor,Endothelial Kruppel Like Zinc Finger Protein,Factor 4, Kruppel-Like,Factor, Gut-Enriched Kruppel-Like,Gut Enriched Kruppel Like Factor,Kruppel Like Factor 4,Protein, EZF,Protein, GKLF,Protein, Klf4
D000326 Adrenoleukodystrophy An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D057026 Induced Pluripotent Stem Cells Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS. Human Induced Pluripotent Stem Cell,IPS Cell,IPS Cells,Induced Pluripotent Stem Cell,Fibroblast-Derived IPS Cells,Fibroblast-Derived Induced Pluripotent Stem Cells,Human Induced Pluripotent Stem Cells,hiPSC,Cell, Fibroblast-Derived IPS,Cell, IPS,Cells, Fibroblast-Derived IPS,Cells, IPS,Fibroblast Derived IPS Cells,Fibroblast Derived Induced Pluripotent Stem Cells,Fibroblast-Derived IPS Cell,IPS Cell, Fibroblast-Derived,IPS Cells, Fibroblast-Derived

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