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Cellosaurus GD-iPS3 (CVCL_C949)

[Text version]
Cell line name GD-iPS3
Synonyms GD-IPS3
Accession CVCL_C949
Resource Identification Initiative To cite this cell line use: GD-iPS3 (RRID:CVCL_C949)
Comments From: Children's Hospital Boston; Boston; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu29Alafs*18 (c.84dupG) (c.84_85insG) (84GG); ClinVar=VCV000004302; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; 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_8515 (GM00852)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041; PMCID=PMC2633781
Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A., Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.
Disease-specific induced pluripotent stem cells.
Cell 134:877-886(2008)

Patent=US20110151447
Park I.-H., Daley G.Q., Agarwal S., Lerou P.H.
Method to produce induced pluripotent stem (iPS) cells from non-embryonic human cells.
Patent number US20110151447, 23-Jun-2011

Cross-references
Encyclopedic resources Wikidata; Q54835523
Entry history
Entry creation22-Oct-2012
Last entry update10-Sep-2024
Version number22