Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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 |
Antal sider | 5 |
ISSN | 1873-5061 |
DOI | |
Status | Udgivet - aug. 2018 |
ID: 56084739