ID   C11011
AC   CVCL_VG28
DR   SKIP; SKIP001328
DR   Wikidata; Q54807834
RX   PubMed=26740656;
CC   Sequence variation: Mutation; HGNC; HGNC:5173; HRAS; Simple; p.Gly12Ser (c.34G>A); ClinVar=VCV000012602; Zygosity=Unspecified (PubMed=26740656).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84652; Costello syndrome
DI   ORDO; Orphanet_3071; Costello syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=26740656; DOI=10.1523/JNEUROSCI.1547-15.2016; PMCID=PMC4701956;
RA   Rooney G.E., Goodwin A.F., Depeille P., Sharir A., Schofield C.M.,
RA   Yeh E., Roose J.P., Klein O.D., Rauen K.A., Weiss L.A., Ullian E.M.;
RT   "Human iPS cell-derived neurons uncover the impact of increased Ras
RT   signaling in Costello syndrome.";
RL   J. Neurosci. 36:142-152(2016).
//