Cellosaurus logo
expasy logo

Cellosaurus GSS-Y218N-iPS (CVCL_VL24)

[Text version]
Cell line name GSS-Y218N-iPS
Synonyms FH10
Accession CVCL_VL24
Resource Identification Initiative To cite this cell line use: GSS-Y218N-iPS (RRID:CVCL_VL24)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Tyr218Asn (c.652T>A); Zygosity=Unspecified (PubMed=28466265).
Disease Gerstmann-Straussler-Scheinker disease (NCIt: C84727)
Gerstmann-Straussler-Scheinker syndrome (ORDO: Orphanet_356)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling >54Y
Category Induced pluripotent stem cell
Publications

PubMed=28466265; DOI=10.1007/s12035-017-0506-6; PMCID=PMC5842509
Matamoros-Angles A., Gayosso L.M., Richaud-Patin Y., di Domenico A., Vergara C., Hervera A., Sousa A., Fernandez-Borges N., Consiglio A., Gavin R., Lopez de Maturana R., Ferrer I., Lopez de Munain A., Raya A., Castilla J., Sanchez-Pernaute R., del Rio J.A.
iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate Tau pathology.
Mol. Neurobiol. 55:3033-3048(2018)

Cross-references
Encyclopedic resources Wikidata; Q93935250
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9