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Cellosaurus GM06231 (CVCL_N050)

[Text version]
Cell line name GM06231
Synonyms GM6231; GM17380; PBD061
Accession CVCL_N050
Resource Identification Initiative To cite this cell line use: GM06231 (RRID:CVCL_N050)
Comments Part of: Human variation panel.
Population: Africans north of the Sahara.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 8857; PEX16; Simple; p.Arg176Ter (c.526C>T); ClinVar=VCV000006466; Zygosity=Homozygous (PubMed=9922452).
Disease Peroxisome biogenesis disorder 8A (NCIt: C155762)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1M
Category Finite cell line
Publications

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)

PubMed=9922452; DOI=10.1083/jcb.144.2.255
South S.T., Gould S.J.
Peroxisome synthesis in the absence of preexisting peroxisomes.
J. Cell Biol. 144:255-266(1999)

Cross-references
Cell line collections (Providers) Coriell; GM06231
Coriell; GM17380
Cell line databases/resources CLO; CLO_0012204
CLO; CLO_0023106
Encyclopedic resources Wikidata; Q54842235
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number14