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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.

Stem cell research - 1 Aug 2018

Hey Caroline Amalie Brunbjerg, Saltõkowa Katarina Beata, Larsen Lasse Jonsgaard, Tümer Zeynep, Brøndum-Nielsen Karen, Grønskov Karen, Hjortshøj Tina Duelund, Møller Lisbeth Birk

Abstract excerpt

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....

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Identifiers

PMID: 30142598
DOI: 10.1016/j.scr.2018.08.005

Genes

BBS1

Variants

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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.PMID 30142598Read ↗

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