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

Resource tableUnique stem cell line identifierKCi002-AAlternative name(s) of stem cell lineBBS10 Clone1AInstitutionRigshospitalet, Kennedy CenterContact information of distributorLisbeth Birk Møller, Lisbeth.Birk.Moeller@regionh.dkType of cell lineinduced pluripotent stem cell (iPSC)OriginHumanAdditional origin infoMale, CaucasianCell sourceDermal fibroblastsClonalityClonalMethod of reprogrammingNucleofection with non-integrating episomal plasmids carrying OCT3/4, SOX2, KLF4, L-MYC, LIN28 and shP53Genetic modificationNAType of modificationNAAssociated diseaseAutosomal recessive Bardet-Biedl syndromeGene/locusBBS10, Chr 12: g.7674149insT, p.(Cys91fsX95), homozygous.Ref sequence: NM_024685.3Method of modificationNAName of transgene or resistanceNAInducible/constitutive systemNADate archived/stock date25-01-2018Cell line repository/bankNAEthical approvalThe study was approved by the regional scientific ethical committee in the Capital Region of Denmark (H-3-2014-140). Written informed consent was obtained from the patients.