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.
Bibliografisk noteAll 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
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. . https://doi.org/10.1016/j.scr.2018.09.013