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
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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.
Originalsprog | Engelsk |
---|---|
Tidsskrift | Stem Cell Research |
Vol/bind | 31 |
Sider (fra-til) | 235-239 |
ISSN | 1873-5061 |
DOI | |
Status | Udgivet - 2018 |
Bibliografisk note
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
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