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

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

doi:10.1016/j.scr.2018.09.013

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 Res. 2018 Dec:33:46-50. doi: 10.1016/j.scr.2018.09.013. Epub 2018 Sep 20.

Authors

Caroline Amalie Brunbjerg Hey¹, Katarina Beata Saltõkowa¹, Lasse Jonsgaard Larsen¹, Zeynep Tümer¹, Karen Brøndum-Nielsen¹, Karen Grønskov¹, Tina Duelund Hjortshøj¹, Lisbeth Birk Møller²

Affiliations

¹ Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
² Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address: Lisbeth.birk.moeller@regionh.dk.

PMID: 30312873
DOI: 10.1016/j.scr.2018.09.013

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. Resource table.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bardet-Biedl Syndrome / genetics*
Homozygote
Humans
Induced Pluripotent Stem Cells / metabolism*
Male
Mutation

Supplementary concepts

Bardet-Biedl Syndrome 10