TY - JOUR
T1 - Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT
AU - Hey, Amalie Brunbjerg
AU - Saltõkowa, Katarina Beata
AU - Larsen, Lasse Jonsgaard
AU - Tümer, Zeynep
AU - Brøndum-Nielsen, Karen
AU - Grønskov, Karen
AU - Duelund Hjortshøj, Tina
AU - Møller, Lisbeth Birk
N1 - 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
PY - 2018/12
Y1 - 2018/12
N2 - 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.
AB - 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.
U2 - 10.1016/j.scr.2018.09.013
DO - 10.1016/j.scr.2018.09.013
M3 - Journal article
SN - 1873-5061
VL - 33
SP - 46
EP - 50
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 33
ER -