Abstract
Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test.
Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.
MeSH terms
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Alleles
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Animals
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Base Sequence
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Cell Differentiation
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Cell Line
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Cellular Reprogramming*
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DNA Mutational Analysis
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Fibroblasts / cytology
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Fibroblasts / metabolism
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Genotype
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Heterozygote
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Humans
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Induced Pluripotent Stem Cells / cytology*
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Induced Pluripotent Stem Cells / metabolism
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Induced Pluripotent Stem Cells / transplantation
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Karyotype
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Kruppel-Like Factor 4
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Male
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Mice
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Mice, Inbred NOD
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Mutagenesis, Insertional
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Tay-Sachs Disease / genetics
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Tay-Sachs Disease / metabolism
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Tay-Sachs Disease / pathology*
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Teratoma / pathology
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Transcription Factors / genetics
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Transcription Factors / metabolism
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Transplantation, Heterologous
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beta-Hexosaminidase alpha Chain / genetics*
Substances
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KLF4 protein, human
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Klf4 protein, mouse
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Kruppel-Like Factor 4
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Transcription Factors
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HEXA protein, human
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beta-Hexosaminidase alpha Chain