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
Summary
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). Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Aug;31:235-239 |
| PubMed | 30142598 |
| DOI | 10.1016/j.scr.2018.08.005 |