• Mutation; HGNC; HGNC:4982; HMBS; Simple; p.Arg26Cys (c.76C>T); ClinVar=VCV000645443; Zygosity=Heterozygous (Coriell=GM00931).
  

PubMed=1165472; DOI=10.1084/jem.142.3.722; PMCID=PMC2189917
Shigeru Sassa, George Irving Solish, Richard D. Levere, Attallah Kappas;
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
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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)