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
| Autor: | Zeynep Tümer, Karen Brøndum-Nielsen, Lisbeth Birk Møller, Katarina Beata Saltõkowa, Caroline Amalie Brunbjerg Hey, Tina Duelund Hjortshøj, Lasse Jonsgaard Larsen, Karen Grønskov |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty BBS1 Genotype Induced Pluripotent Stem Cells Biology Compound heterozygosity 03 medical and health sciences Bardet–Biedl syndrome Internal medicine medicine Polycystic kidney disease Humans Induced pluripotent stem cell Bardet-Biedl Syndrome lcsh:QH301-705.5 Polydactyly Cell Biology General Medicine Microtubule-Associated Proteins/genetics medicine.disease Induced Pluripotent Stem Cells/metabolism Ciliopathy 030104 developmental biology Endocrinology lcsh:Biology (General) Mutation Female Bardet-Biedl Syndrome/genetics Microtubule-Associated Proteins Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 31, Iss, Pp 235-239 (2018) Hey, C A B, Saltõkowa, K B, Larsen, L J, Tümer, Z, Brøndum-Nielsen, K, Grønskov, K, Hjortshøj, T D & Møller, L B 2018, ' 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, vol. 31, pp. 235-239 . https://doi.org/10.1016/j.scr.2018.08.005 |
| ISSN: | 1873-5061 |
| DOI: | 10.1016/j.scr.2018.08.005 |
| Popis: | 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 tableUnlabelled 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. |
| Databáze: | OpenAIRE |
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