Cellosaurus cell line S37P-hTERT (CVCL

Cross-references
Cell line name	S37P-hTERT
Accession	CVCL_C0QI
Resource Identification Initiative	To cite this cell line use: S37P-hTERT (RRID:CVCL_C0QI)
Comments	Population: Caucasian. Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT. Genetic integration: Method=Transduction; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP). Omics: Acetylation analysis by proteomics. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18704; NAA10; Simple; p.Ser37Pro (c.109T>C); ClinVar=VCV000029927; Zygosity=Hemizygous (PubMed=25489052).
Disease	Ogden syndrome (NCIt: C188215) Ogden syndrome (ORDO: Orphanet_276432)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	<1Y
Category	Telomerase immortalized cell line
Publications	PubMed=25489052; DOI=10.1093/hmg/ddu611; PMCID=PMC4355026 Myklebust L.M., Van Damme P., Stove S.I., Dorfel M.J., Abboud A., Kalvik T.V., Grauffel C., Jonckheere V., Wu Y.-Y., Swensen J.J., Kaasa H., Liszczak G., Marmorstein R., Reuter N., Lyon G.J., Gevaert K., Arnesen T. Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Hum. Mol. Genet. 24:1956-1976(2015)
Encyclopedic resources	Wikidata; Q114312943
Proteomic databases	PRIDE; PXD001282
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	7