ID   GM06231
AC   CVCL_N050
SY   GM6231; GM17380; PBD061
DR   CLO; CLO_0012204
DR   CLO; CLO_0023106
DR   Coriell; GM06231
DR   Coriell; GM17380
DR   Wikidata; Q54842235
RX   CelloPub=CLPUB00447;
RX   PubMed=9922452;
CC   Part of: Human variation panel.
CC   Population: Africans north of the Sahara.
CC   Sequence variation: Mutation; HGNC; 8857; PEX16; Simple; p.Arg176Ter (c.526C>T); ClinVar=VCV000006466; Zygosity=Homozygous (PubMed=9922452).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C155762; Peroxisome biogenesis disorder 8A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1M
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 14
//
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).
//
RX   PubMed=9922452; DOI=10.1083/jcb.144.2.255;
RA   South S.T., Gould S.J.;
RT   "Peroxisome synthesis in the absence of preexisting peroxisomes.";
RL   J. Cell Biol. 144:255-266(1999).
//