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Region Hovedstaden - en del af Københavns Universitetshospital
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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. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Distribution of risk alleles in patients with age-related macular degeneration

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Chromothripsis and DNA Repair Disorders

    Publikation: Bidrag til tidsskriftReviewForskningpeer 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