ID   GM00939
AC   CVCL_W223
SY   GM-939
DR   CLO; CLO_0029546
DR   Coriell; GM00939
DR   GEO; GSM1266956
DR   Wikidata; Q54836548
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=25326100;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4982; HMBS; Simple; p.Arg195Cys (c.583C>T); ClinVar=VCV000161251; Zygosity=Heterozygous (Coriell=GM00939).
CC   Omics: SNP array analysis.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84536; Acute intermittent porphyria
DI   ORDO; Orphanet_79276; Acute intermittent porphyria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W224 ! GM02135
SX   Female
AG   32Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=25326100; DOI=10.15252/msb.20145114;
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).
//