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Cellosaurus GM00939 (CVCL_W223)

[Text version]
Cell line name GM00939
Synonyms GM-939
Accession CVCL_W223
Resource Identification Initiative To cite this cell line use: GM00939 (RRID:CVCL_W223)
Comments Population: Caucasian.
Omics: SNP array analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4982; HMBS; Simple; p.Arg195Cys (c.583C>T); ClinVar=VCV000161251; Zygosity=Heterozygous (Coriell=GM00939).
Disease Acute intermittent porphyria (NCIt: C84536)
Acute intermittent porphyria (ORDO: Orphanet_79276)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W224 ! GM02135
Sex of cell Female
Age at sampling 32Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=25326100; DOI=10.15252/msb.20145114
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)

Cross-references
Cell line collections (Providers) Coriell; GM00939
Cell line databases/resources CLO; CLO_0029546
Encyclopedic resources Wikidata; Q54836548
Gene expression databases GEO; GSM1266956
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number13