Abstract
We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) in KIT gene by episomal vector (EV) reprogramming system. This iPSC line carrying KIT gene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential.
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Differentiation
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Cell Line / cytology
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Cell Line / metabolism*
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Cellular Reprogramming
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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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Infant, Newborn
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Male
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Mastocytosis / genetics*
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Mastocytosis / metabolism
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Mastocytosis / physiopathology
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Point Mutation
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Proto-Oncogene Proteins c-kit / genetics*
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Proto-Oncogene Proteins c-kit / metabolism
Substances
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KIT protein, human
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Proto-Oncogene Proteins c-kit