Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Publication date: Available online 20 September 2018Source: Stem Cell ResearchAuthor(s): Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk MøllerAbstractBardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.Resource tableUnique stem cell line identifierKCi002-AAlternative name(s) of stem cell lineBBS10 Clone1AInstitutionRigshospitalet, Kennedy CenterContact information of distributorLisbeth Birk Møller, Type of cell lineinduced pluripotent stem cell (iPSC)OriginHumanAdditional origin infoMale, CaucasianCell sourceDermal fibroblastsClonalityClonalMethod of reprogrammingNucleofection with non-integrating episomal plasmids carrying , , , , and Genetic modificationNAType of modificationNAAssociated diseaseAutosomal recessive Bardet-Biedl syndromeGene/locus, Chr 12: g.7674149insT, p.(Cys91fsX95), homozygous.Ref sequence: NM_024685.3Method of modificationNAName of transgene or resistanceNAInducible/constitutive systemNADate archived/stock date25-01-...
Source: Stem Cell Research - Category: Stem Cells Source Type: research