ID   GM02124
AC   CVCL_4J45
SY   GM-2124
DR   CLO; CLO_0031847
DR   BioSample; SAMN00807498
DR   Coriell; GM02124
DR   Wikidata; Q54837308
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4982; HMBS; Simple; p.Val93Phe (c.277G>T); Zygosity=Heterozygous (Coriell=GM02124).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84536; Acute intermittent porphyria
DI   ORDO; Orphanet_79276; Acute intermittent porphyria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
//
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).
//