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Cellosaurus iPSc-GD-C21 (CVCL_IN11)

[Text version]
Cell line name iPSc-GD-C21
Synonyms GD iPSC C21; Gaucher iPSC-C21; C21; 21C
Accession CVCL_IN11
Resource Identification Initiative To cite this cell line use: iPSc-GD-C21 (RRID:CVCL_IN11)
Comments Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Gly241Arg (c.721G>A) (G202R); ClinVar=VCV000093459; Zygosity=Heterozygous (PubMed=23118351).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=23118351).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_IN10 ! iPSc-GD-A8
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=23118351; DOI=10.1093/hmg/dds471
Tiscornia G., Vivas E.L., Matalonga L., Berniakovich I., Barragan Monasterio M., Eguizabal C., Gort L., Gonzalez F., Ortiz Mellet C., Garcia Fernandez J.M., Ribes A., Veiga A., Izpisua Belmonte J.C.
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.
Hum. Mol. Genet. 22:633-645(2013)

Cross-references
Encyclopedic resources Wikidata; Q54898225
Gene expression databases GEO; GSM1012128
Entry history
Entry creation01-Dec-2016
Last entry update29-Jun-2023
Version number15