Download Full Text (pdf) Of Generation Of A Human IPSC Line (UUIGPi015-A) From A Patient With Dravet Syndrome And A 2.9 Mb Delet.pdf

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🔗 Source: uu.diva-portal.org
📊 Size: 2.51 MB
👤 Author: Jens Schuster
⬇️ Downloads: 383

Summary

Researchers generated a human iPSC line (UUIGPi015-A) from a 6-year-old female Dravet syndrome patient with a 2.9 Mb deletion on chromosome 2, spanning SCN1A and 9 flanking genes. The iPSC line expresses pluripotency markers, demonstrates tri-lineage differentiation capacity, and lacks exogenous reprogramming factors. It retained the patient's deletion and showed genomic stability, making it a useful resource for studying Dravet syndrome pathophysiology and testing drug responsiveness.

Description

Researchers generated a human iPSC line (UUIGPi015-A) from a 6-year-old female Dravet syndrome patient with a 2.9 Mb deletion on chromosome 2, spanning SCN1A...

Technical Information

  • File Format: PDF
  • File Size: 2.51 MB
  • Pages: 5
  • Language: EN
  • Author: Jens Schuster
  • Total Downloads: 383
  • Last Updated: 1 month ago

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