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

Resource tableUnique stem cell line identifierKCi001-AAlternative name(s) of stem cell lineBBS1 Clone10InstitutionKennedy Center, RigshospitaletContact information of distributorLisbeth Birk Møller, Lisbeth.Birk.Moeller@regionh.dkType of cell lineInduced pluripotent stem cell line (iPSC)OriginHumanAdditional origin infoFemale, 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/locusBBS1, Chr11: g.66293652 T > G, p.(Met390Arg); g.66293618G > C, p.(Gly379Arg); compound heterozygous.Ref sequence: NM_024649.4Method 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.