ID   WG1514
AC   CVCL_RG13
DR   GEO; GSM1257716
DR   GEO; GSM1266922
DR   GEO; GSM1267014
DR   GEO; GSM1288454
DR   Wikidata; Q54993882
RX   CelloPub=CLPUB00668;
RX   PubMed=24555846;
RX   PubMed=25326100;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668).
CC   Omics: DNA methylation analysis.
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 7
//
RX   CelloPub=CLPUB00668;
RA   Anastasio N.;
RT   "Allelic expression of MMACHC and evidence for genotype-phenotype
RT   correlations in cblC disease.";
RL   Thesis MSc (2010); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980;
RA   Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M.;
RT   "The relationship between DNA methylation, genetic and expression
RT   inter-individual variation in untransformed human fibroblasts.";
RL   Genome Biol. 15:R37.1-R37.17(2014).
//
RX   PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376;
RA   Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B.,
RA   Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H.,
RA   Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.;
RT   "Allelic expression mapping across cellular lineages to establish
RT   impact of non-coding SNPs.";
RL   Mol. Syst. Biol. 10:754-754(2014).
//