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Cellosaurus GM03391 (CVCL_IN49)

[Text version]
Cell line name GM03391
Accession CVCL_IN49
Resource Identification Initiative To cite this cell line use: GM03391 (RRID:CVCL_IN49)
Comments Population: Iranian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 23026; GNPTG; Simple; p.Ala149Profs*13 (c.445delG); ClinVar=VCV000039080; Zygosity=Homozygous (Coriell=GM03391).
Disease Mucolipidosis type III gamma (NCIt: C129978)
Mucolipidosis type III gamma (ORDO: Orphanet_423470)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
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 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; GM03391
Cell line databases/resources CLO; CLO_0016624
Biological sample resources BioSample; SAMN00808386
Encyclopedic resources Wikidata; Q54838043
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number14