Cellosaurus logo
expasy logo

Cellosaurus GM03172 (CVCL_N004)

[Text][XML][JSON]
Cell line name GM03172
Synonyms GM17372
Accession CVCL_N004
Resource Identification Initiative To cite this cell line use: GM03172 (RRID:CVCL_N004)
Comments Part of: Human variation panel.
Population: Caucasian; Greek.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Ser188Phe (c.653C>T); ClinVar=VCV000100057; Zygosity=Unspecified (Coriell=GM03172).
Disease Glucose-6-phosphate dehydrogenase deficiency (NCIt: C98933)
Class I glucose-6-phosphate dehydrogenase deficiency (ORDO: Orphanet_466026)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 39Y
Category Finite cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM03172
Coriell; GM17372
Cell line databases/resources CLO; CLO_0013544
CLO; CLO_0013697
Biological sample resources BioSample; SAMN00808270
Encyclopedic resources Wikidata; Q54837902
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number16