4.2 Article

Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

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STEM CELL RESEARCH
卷 53, 期 -, 页码 -

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ELSEVIER
DOI: 10.1016/j.scr.2021.102254

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资金

  1. Science Foundation Ireland [13/IA/1787]
  2. FutureNeuro Centre grant [16/RC/3948]
  3. National Children Research Centre (NCRC)
  4. Galway University Foundation
  5. China Scholarship Council (CSC)
  6. NUI Galway
  7. Irish Government's Programme for Research in Third Level Institutions, Cycle 4, National Development Plan 2007-2013
  8. Irish Government's Programme for Research in Third Level Institutions, Cycle 5, National Development Plan 2007-2013
  9. HRB-Clinical Research Facility Galway, a unit of NUI Galway
  10. Saolta University Health Care Group
  11. Science Foundation Ireland (SFI) [13/IA/1787] Funding Source: Science Foundation Ireland (SFI)

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NRXN1 deletions are commonly found in ASD and other neurodevelopmental/neuropsychiatric disorders. Derivation of iPSCs from different diseases involving different deletion regions is essential for studying NRXN1's numerous splicing variants.
NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different deletion regions are essential, as NRXN1 may produce thousands of splicing variants. We report here the derivation of iPSCs from a sibling control and an ASD proband carrying de novo heterozygous deletions in the middle region of NRXN1, using a non-integrating Sendai viral kit. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. All iPSC lines highly expressed pluripotency markers and could be differentiated into three germ layers.

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