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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Distribution of risk alleles in patients with age-related macular degeneration

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking of membrane proteins in the cilium, a process important for cilia-mediated signal transduction. Here we describe the generation of three induced pluripotent stem cell (iPSC) lines, KCi003-A, KCi003-B and KCi003-C from a patient with BBS and homozygous for the disease causing variant c.214G>A, p.(Gly72Ser) in BBS5. The iPSC lines can be used for investigation of IFT in different cell types differentiated from the iPSC line.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind41
Sider (fra-til)101594
ISSN1873-5061
DOI
StatusUdgivet - dec. 2019

Bibliografisk note

Copyright © 2019. Published by Elsevier B.V.

ID: 58940840