ID   GSS-Y218N-iPS
AC   CVCL_VL24
SY   FH10
DR   Wikidata; Q93935250
RX   PubMed=28466265;
CC   Sequence variation: Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Tyr218Asn (c.652T>A); Zygosity=Unspecified (PubMed=28466265).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84727; Gerstmann-Straussler-Scheinker disease
DI   ORDO; Orphanet_356; Gerstmann-Straussler-Scheinker syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   >54Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28466265; DOI=10.1007/s12035-017-0506-6; PMCID=PMC5842509;
RA   Matamoros-Angles A., Gayosso L.M., Richaud-Patin Y., di Domenico A.,
RA   Vergara C., Hervera A., Sousa A., Fernandez-Borges N., Consiglio A.,
RA   Gavin R., Lopez de Maturana R., Ferrer I., Lopez de Munain A.,
RA   Raya A., Castilla J., Sanchez-Pernaute R., del Rio J.A.;
RT   "iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with
RT   the Y218N PRNP mutation recapitulate Tau pathology.";
RL   Mol. Neurobiol. 55:3033-3048(2018).
//