Generation of two iPSC lines derived from two unrelated patients with Gaucher disease
| Autor: | Nagel, Maike, Reichbauer, Jennifer, Böhringer, Judith, Schelling, Yvonne, Krägeloh-Mann, Inge, Schüle, Rebecca, Ulmer, Ulrike |
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| Rok vydání: | 2018 |
| Předmět: |
genetics [Gaucher Disease]
Gaucher Disease Homozygote Induced Pluripotent Stem Cells Infant pathology [Induced Pluripotent Stem Cells] Cell Line metabolism [Induced Pluripotent Stem Cells] metabolism [Gaucher Disease] Kruppel-Like Factor 4 lcsh:Biology (General) ddc:570 Child Preschool Mutation Glucosylceramidase Humans Female metabolism [Glucosylceramidase] lcsh:QH301-705.5 pathology [Gaucher Disease] Alleles |
| Zdroj: | Stem cell research 35, 101336 (2019). doi:10.1016/j.scr.2018.10.021 Stem Cell Research, Vol 35, Iss, Pp-(2019) |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2018.10.021 |
| Popis: | Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c.1448 T > C, p.Leu483Pro at homozygous state; fibroblasts for line iPS-GBA-2 were obtained from a 4 year old girl compound heterozygous for the GBA mutations c.667 T > C, p.Trp223Arg and c.1226A > G, p.Asn409Ser. iPSCs were developed using integration free episomal vectors (OCT4, KLF4; L-MYC, SOX2 (OSKM) and LIN28).Resource tableUnlabelled TableUnique stem cell lines identifierHIHRSi001-AHIHRSi002-AAlternative names of stem cell linesiPSC-GBA-1 (HIHRSi001-A)iPSC-GBA-2 (HIHRSi002-A)InstitutionHertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyContact information of distributorRebecca Schülerebecca.schuele-freyer@uni-tuebingen.deType of cell linesInduced pluripotent stem cell (iPSC)OriginHumanCell sourceFibroblastsClonalityClonalMethod of reprogrammingNon-integrating episomal plasmidsMultiline rationaleTwo cell lines carrying individual GBA mutationsGene modificationYesType of modificationinherited mutationAssociated diseaseGaucher Disease, neuronopathic (OMIM # 230900, 23100)Gene/locusGBAiPSC-GBA-1: NM_000157.3(GBA): c.[1448 T > C]; [1448 T > C] | p.[Leu483Pro]; [Leu483Pro] (originally published as Leu444Pro (Tsuji et al., 1987))iPSC-GBA-2: NM_000157.3(GBA): c.[667 T > C];[1226A > G] | p.[Trp223Arg];[Asn409Ser] (Trp223Arg originally published as Trp184Arg (Choy et al., 2000))Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateJune 2017Cell line repository/bankN/AEthical approvalInstitutional Review Board (“Ethikkommission”) University of Tübingen Medical School, Germany, approval number 819/2016A (2016/12/21) |
| Databáze: | OpenAIRE |
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