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Cellosaurus GM00932 (CVCL_4J14)

[Text version]
Cell line name GM00932
Synonyms GM-932
Accession CVCL_4J14
Resource Identification Initiative To cite this cell line use: GM00932 (RRID:CVCL_4J14)
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; 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 Male
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=1165472; DOI=10.1084/jem.142.3.722
Sassa S., Solish G., 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) 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)

Cross-references
Cell line collections (Providers) Coriell; GM00932
Cell line databases/resources CLO; CLO_0029571
Encyclopedic resources Wikidata; Q54836541
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number10