Cellosaurus logo
expasy logo

Cellosaurus GM00933 (CVCL_4J15)

[Text version]
Cell line name GM00933
Synonyms GM-933
Accession CVCL_4J15
Resource Identification Initiative To cite this cell line use: GM00933 (RRID:CVCL_4J15)
Comments Population: Caucasian.
Characteristics: Has decreased HMBS activity.
Donor information: At sampling donor was not affected with acute intermittent porphyria but at significant risk for disease.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4982; HMBS; Simple; p.Arg26Cys (c.76C>T); ClinVar=VCV000645443; Zygosity=Heterozygous (from familial inference of GM00931).
Disease Acute intermittent porphyria (NCIt: C84536)
Acute intermittent porphyria (ORDO: Orphanet_79276)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y3M
Category Finite cell line
Publications

PubMed=1165472; DOI=10.1084/jem.142.3.722; PMCID=PMC2189917
Sassa S., Solish G.I., Levere R.D., Kappas A.
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
J. Exp. Med. 142:722-731(1975)

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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM00933
Cell line databases/resources CLO; CLO_0029570
Encyclopedic resources Wikidata; Q54836542
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number11