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Characterization of chromosomal mutations in human embryonic stem cells that fail to differentiate

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Chromosomal mutations lead to abnormal karyotypes and multiple genetic disorders in a variety of mammalian species. During extended cell culture and proliferation, human stem cells have demonstrated a predisposition to deletions or amplifications of multiple regions. Here we describe two additional chromosomal abnormalities (deletions on Ch10 and loss of heterozygosity on Ch5) associated with a female human embryonic stem cell H9 line that failed to undergo induced differentiation. Cytogenetic studies detected amplifications, deletions and translocations in multiple chromosomes. In an attempt to characterize these mutations, remapping, sequencing, and gene ontology was performed. Here we identify and analyze protein coding genes localizing to mutated regions.

  • This report represents the work of one or more WPI undergraduate students submitted to the faculty as evidence of completion of a degree requirement. WPI routinely publishes these reports on its website without editorial or peer review.
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  • E-project-042717-063421
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  • 2017
Date created
  • 2017-04-27
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