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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Balanced translocation in a patient with abortus habitualis and normal karyotype

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10. Resource table.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind33
Sider (fra-til)46-50
Antal sider5
ISSN1873-5061
DOI
StatusUdgivet - dec. 2018

ID: 56084673