Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).
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, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. Stem Cell Research, 31, 235-239. https://doi.org/10.1016/j.scr.2018.08.005