Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Publication date: Available online 18 November 2018Source: Stem Cell ResearchAuthor(s): Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike UlmerAbstractGaucher 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 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 SchüleType of cell linesInduced pluripotent stem cell (iPSC)OriginHumanCell sourceFibroblastsClonalityClonalMethod of reprogrammingNon-integrating episomal plasmidsMultiline rationaleTwo cell lines carrying individual GBA mutationsGene modificatio...
Source: Stem Cell Research - Category: Stem Cells Source Type: research