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; HGNC:4982; HMBS; Simple; p.Arg195Cys (c.583C>T); ClinVar=VCV000161251; Zygosity=Heterozygous (Coriell=GM00939).
CC   Omics: Variations; 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: 10-04-25; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376;
RA   Adoue, Veronique
RA   Schiavi, Alicia
RA   Light, Nicholas
RA   Almlof, Jonas Carlsson
RA   Lundmark, Per
RA   Ge, Bing
RA   Kwan, Tony
RA   Caron, Maxime
RA   Ronnblom, Lars
RA   Wang, Chuan
RA   Chen, Shu-Huang
RA   Goodall, Alison H.
RA   Cambien, Francois
RA   Deloukas, Panos
RA   Ouwehand, Willem Hendrik
RA   Syvanen, Ann-Christine
RA   Pastinen, Tomi
RT   "Allelic expression mapping across cellular lineages to establish
RT   impact of non-coding SNPs.";
RL   Mol. Syst. Biol. 10:754-754(2014).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//