Cellosaurus cell line WG1513 (CVCL

Cellosaurus WG1513 (CVCL_RG12)

Cross-references
Cell line name	WG1513
Accession	CVCL_RG12
Resource Identification Initiative	To cite this cell line use: WG1513 (RRID:CVCL_RG12)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Omics: DNA methylation analysis. Omics: SNP array analysis. Omics: Transcriptome analysis by microarray. Miscellaneous: Cell line no longer available. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Adult
Category	Finite cell line
Publications	CLPUB00668 Anastasio N. Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease. Thesis MSc (2010); McGill University Montreal; Montreal; Canada PubMed=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980 Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M. The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts. Genome Biol. 15:R37.1-R37.17(2014) PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376 Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T. Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs. Mol. Syst. Biol. 10:754-754(2014)
Encyclopedic resources	Wikidata; Q54993881
Gene expression databases	GEO; GSM1257715 GEO; GSM1266921 GEO; GSM1267013 GEO; GSM1288453
Entry history
Entry creation	05-Mar-2018
Last entry update	29-Jun-2023
Version number	7