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Cellosaurus iPSc-GD-A8 (CVCL_IN10)

[Text version]
Cell line name iPSc-GD-A8
Synonyms GD iPSC A8; Gaucher iPSC-A8; A8
Accession CVCL_IN10
Resource Identification Initiative To cite this cell line use: iPSc-GD-A8 (RRID:CVCL_IN10)
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_IN11 ! iPSc-GD-C21
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; Q54898224
Gene expression databases GEO; GSM1012130
Entry history
Entry creation01-Dec-2016
Last entry update29-Jun-2023
Version number15