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Cellosaurus CET.IPS.FFGAU-500 (CVCL_RM15)

[Text version]
Cell line name CET.IPS.FFGAU-500
Synonyms iPSC FFGAU
Accession CVCL_RM15
Resource Identification Initiative To cite this cell line use: CET.IPS.FFGAU-500 (RRID:CVCL_RM15)
Comments From: Cellular Engineering Technologies (CET), Inc.; Coralville; USA.
From: John Paul II Medical Research Institute; Coralville; USA.
Population: African American.
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=Heterozygous (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_0R33 (GM04394)
Sex of cell Male
Age at sampling 1Y4M
Category Induced pluripotent stem cell
Web pages https://www.celleng-tech.com/ips-cell-lines
https://www.jp2mri.org/gaucher-disease-type-i
Cross-references
Cell line collections (Providers) CLS; 300617 - Discontinued
Encyclopedic resources Wikidata; Q54809354
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number16