Högskolan i Skövde

his.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
In vitro modelling of recessive dystrophic epidermolysis bullosa (RDEB) using stem cells and genome editing
Högskolan i Skövde, Institutionen för hälsa och lärande.
2019 (Engelska)Självständigt arbete på grundnivå (kandidatexamen), 20 poäng / 30 hpStudentuppsats (Examensarbete)
Abstract [en]

Epidermolysis Bullosa (EB) is a group of inherited skin blistering diseases which is associated with severely compromised integrity of the skin. One of the most severe form is recessive dystrophic EB (RDEB) caused by loss-of-function mutations in the COL7A1 gene, encoding type VII collagen (COL7). Deficiency of COL7 results in skin fragility, leading to severe recurrent trauma-induced blistering of the skin. Currently, there is no effective therapy or cure for RDEB. Several treatment approaches are ongoing, but the lack of representative skin models of the physiology and structure of the skin have limited such studies to date. Here, induced pluripotent stem cell (iPSC) technology was used in conjunction with genome editing on previously derived iPSCs heterozygous for a mutation in COL7A1 gene (carrier RDEB-iPSC or cRDEB-iPSC) to generate isogenic cRDEB-iPSC lines by complete knock-out of the COL7A1 gene. These can be further used for the generation of 3D human skin organoids and modeling disease in vitro. First, successful reprogramming of the cRDEB-iPSC line was validated in vitro by pluripotency and differentiation capacity assays. CRISPR-Cas9 targeted gene knock-out upon ribonucleoprotein (RNP) transfection of cRDEB-iPSCs using two different RNPs yielded at least one potential knock-out of the COL7A1 gene. However, COL7 expression must be further assessed to confirm complete COL7A1 gene knock-out on the wild-type allele. Nonetheless, the project demonstrated the success in combining the novel iPSCs and CRISPR-Cas9 technologies but revealed the complexity and possible complications associated with their application.

Ort, förlag, år, upplaga, sidor
2019. , s. 30
Nationell ämneskategori
Naturvetenskap Medicin och hälsovetenskap
Identifikatorer
URN: urn:nbn:se:his:diva-17333OAI: oai:DiVA.org:his-17333DiVA, id: diva2:1332770
Externt samarbete
King's College London
Ämne / kurs
Biomedicin/medicinsk vetenskap
Utbildningsprogram
Biomedicinprogrammet
Handledare
Examinatorer
Tillgänglig från: 2019-07-01 Skapad: 2019-06-28 Senast uppdaterad: 2019-07-01Bibliografiskt granskad

Open Access i DiVA

fulltext(6151 kB)513 nedladdningar
Filinformation
Filnamn FULLTEXT01.pdfFilstorlek 6151 kBChecksumma SHA-512
f70c72937336be2255dd4d4d12b7b05d718ec52340279f7666b922fc048fb4b1c3a908d4fe67d9ca357769e7f8543dbc934cb874803f068f7ca2ac11389a4374
Typ fulltextMimetyp application/pdf

Av organisationen
Institutionen för hälsa och lärande
NaturvetenskapMedicin och hälsovetenskap

Sök vidare utanför DiVA

GoogleGoogle Scholar
Totalt: 513 nedladdningar
Antalet nedladdningar är summan av nedladdningar för alla fulltexter. Det kan inkludera t.ex tidigare versioner som nu inte längre är tillgängliga.

urn-nbn

Altmetricpoäng

urn-nbn
Totalt: 448 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf