Cellosaurus logo
expasy logo

Cellosaurus GM20270 (CVCL_0R41)

[Text version]
Cell line name GM20270
Accession CVCL_0R41
Resource Identification Initiative To cite this cell line use: GM20270 (RRID:CVCL_0R41)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=Splice donor mutation that causes skipping of exon 2 (Coriell=GM20270).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Coriell=GM20270).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20270
Cell line databases/resources CLO; CLO_0027831
Encyclopedic resources Wikidata; Q54850879
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number19