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Cellosaurus UMi035-A (CVCL_B5F1)

[Text version]
Cell line name UMi035-A
Accession CVCL_B5F1
Resource Identification Initiative To cite this cell line use: UMi035-A (RRID:CVCL_B5F1)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Jewish.
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.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (from parent cell line).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0R34 (GM07968)
Sex of cell Male
Age at sampling 19FW
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UMi035-A
Biological sample resources BioSamples; SAMEA112444977
Encyclopedic resources Wikidata; Q110433938
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5