Abstract
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. This cellular model provides a good resource for disease modeling and drug discovery.
Copyright © 2019. Published by Elsevier B.V.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Differentiation / genetics
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Cell Differentiation / physiology
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Humans
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Hyperglycinemia, Nonketotic / genetics*
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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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Kruppel-Like Factor 4
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Kruppel-Like Transcription Factors / genetics
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Kruppel-Like Transcription Factors / metabolism
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Male
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Mutation / genetics*
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Octamer Transcription Factor-3 / genetics
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Octamer Transcription Factor-3 / metabolism
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Proto-Oncogene Proteins c-myc / genetics
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Proto-Oncogene Proteins c-myc / metabolism
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SOXB1 Transcription Factors / genetics
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SOXB1 Transcription Factors / metabolism
Substances
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KLF4 protein, human
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Kruppel-Like Factor 4
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Kruppel-Like Transcription Factors
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MYC protein, human
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Octamer Transcription Factor-3
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Proto-Oncogene Proteins c-myc
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SOXB1 Transcription Factors