ID   GM00933
AC   CVCL_4J15
SY   GM-933
DR   CLO; CLO_0029570
DR   Coriell; GM00933
DR   Wikidata; Q54836542
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1165472;
CC   Population: Caucasian.
CC   Characteristics: Has decreased HMBS activity.
CC   Sequence variation: Mutation; HGNC; 4982; HMBS; Simple; p.Arg26Cys (c.76C>T); ClinVar=VCV000645443; Zygosity=Heterozygous (from familial inference of GM00931).
CC   Donor information: At sampling donor was not affected with acute intermittent porphyria but at significant risk for disease.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84536; Acute intermittent porphyria
DI   ORDO; Orphanet_79276; Acute intermittent porphyria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y3M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 10
//
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=1165472; DOI=10.1084/jem.142.3.722;
RA   Sassa S., Solish G., Levere R.D., Kappas A.;
RT   "Studies in porphyria. IV. Expression of the gene defect of acute
RT   intermittent porphyria in cultured human skin fibroblasts and amniotic
RT   cells: prenatal diagnosis of the porphyric trait.";
RL   J. Exp. Med. 142:722-731(1975).
//