ID   GM01621
AC   CVCL_4J32
SY   GM-1621
DR   CLO; CLO_0031570
DR   BioSample; SAMN00806979
DR   Coriell; GM01621
DR   Wikidata; Q54836953
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4982; HMBS; Simple; p.Thr35Met (c.104C>T); ClinVar=VCV000449465; Zygosity=Heterozygous (Coriell=GM01621).
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)
SX   Female
AG   39Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 12
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//