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Cellosaurus GD2-2627 (CVCL_F4XN)

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Cell line name GD2-2627
Accession CVCL_F4XN
Resource Identification Initiative To cite this cell line use: GD2-2627 (RRID:CVCL_F4XN)
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.Gly364Arg (c.1090G>A) (G325R); ClinVar=VCV000004318; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Cys381Gly (c.1141T>G) (C342G); ClinVar=VCV000004319; Zygosity=Heterozygous (from parent cell line).
Disease Gaucher Disease Type 2 (NCIt: C227666)
Gaucher disease type 2 (ORDO: Orphanet_77260)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0R32 (GM02627)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=25822147; DOI=10.1371/journal.pone.0118771; PMCID=PMC4378893
Ying Sun, Jane Florer, Christopher N. Mayhew, Zhanfeng Jia, Zhiying Zhao, Kui Xu, Huimin Ran, Benjamin Liou, Wujuan Zhang, Kenneth D.R. Setchell, Jianguo Gu, Gregory A. Grabowski;
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
PLoS ONE 10:e0118771-e0118771(2015)

Entry history
Entry creation22-Oct-2026
Last entry update22-Oct-2026
Version number1