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

Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

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Abstract

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.
OriginalsprogEngelsk
Artikelnummer33
TidsskriftStem Cell Research
Vol/bind33
Sider (fra-til)46-50
Antal sider5
ISSN1873-5061
DOI
StatusUdgivet - dec. 2018
Udgivet eksterntJa

Bibliografisk note

All authors of this publication was affiliated to: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark on time of publication

Citer dette

Hey, A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Duelund Hjortshøj, T., & Møller, L. B. (2018). Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. Stem Cell Research, 33, 46-50. [33]. https://doi.org/10.1016/j.scr.2018.09.013