Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Balanced translocation in a patient with abortus habitualis and normal karyotype

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind31
Sider (fra-til)235-239
Antal sider5
ISSN1873-5061
DOI
StatusUdgivet - aug. 2018

ID: 56084739