ID   S37P-hTERT
AC   CVCL_C0QI
DR   PRIDE; PXD001282
DR   Wikidata; Q114312943
RX   PubMed=25489052;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18704; NAA10; Simple; p.Ser37Pro (c.109T>C); ClinVar=VCV000029927; Zygosity=Hemizygous (PubMed=25489052).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
CC   Omics: Acetylation analysis by proteomics.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188215; Ogden syndrome
DI   ORDO; Orphanet_276432; Ogden syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   <1Y
CA   Telomerase immortalized cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
//
RX   PubMed=25489052; DOI=10.1093/hmg/ddu611; PMCID=PMC4355026;
RA   Myklebust L.M., Van Damme P., Stove S.I., Dorfel M.J., Abboud A.,
RA   Kalvik T.V., Grauffel C., Jonckheere V., Wu Y.-Y., Swensen J.J.,
RA   Kaasa H., Liszczak G., Marmorstein R., Reuter N., Lyon G.J., Gevaert K.,
RA   Arnesen T.;
RT   "Biochemical and cellular analysis of Ogden syndrome reveals
RT   downstream Nt-acetylation defects.";
RL   Hum. Mol. Genet. 24:1956-1976(2015).
//