Abstract
Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs. This iPSC line represents a potentially useful tool for investigating LDS disease mechanisms.
Copyright © 2017. Published by Elsevier B.V.
MeSH terms
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Adult
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Animals
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Base Sequence
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Cell Line
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Cellular Reprogramming*
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DNA Mutational Analysis
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Female
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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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Leukocytes, Mononuclear / cytology
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Leukocytes, Mononuclear / metabolism
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Loeys-Dietz Syndrome / metabolism
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Loeys-Dietz Syndrome / pathology*
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Mice
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Mice, Inbred BALB C
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Mice, Nude
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Microscopy, Fluorescence
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Polymorphism, Single Nucleotide
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Protein Serine-Threonine Kinases / genetics*
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics*
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Teratoma / metabolism
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Teratoma / pathology
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Transcription Factors / genetics
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Transcription Factors / metabolism
Substances
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Receptors, Transforming Growth Factor beta
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Transcription Factors
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II