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Cellosaurus GM01323 (CVCL_1V18)

[Text version]
Cell line name GM01323
Synonyms GM-1323
Accession CVCL_1V18
Resource Identification Initiative To cite this cell line use: GM01323 (RRID:CVCL_1V18)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM01323).
  • Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM01323).
Disease Scheie syndrome (NCIt: C61265)
Scheie syndrome (ORDO: Orphanet_93474)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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)

Cross-references
Cell line collections (Providers) Coriell; GM01323
Cell line databases/resources CLO; CLO_0030899
Biological sample resources BioSample; SAMN00803802
Encyclopedic resources Wikidata; Q54836766
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number15