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Cellosaurus GM05093 (CVCL_AB47)

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Cell line name GM05093
Accession CVCL_AB47
Resource Identification Initiative To cite this cell line use: GM05093 (RRID:CVCL_AB47)
Comments Population: Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4422; GNS; Simple; p.Arg355Ter (c.1063C>T); ClinVar=VCV000002932; Zygosity=Homozygous (Coriell=GM05093).
Disease Mucopolysaccharidosis type IIID (NCIt: C84900)
Sanfilippo syndrome type D (ORDO: Orphanet_79272)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
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; GM05093
Cell line databases/resources CLO; CLO_0025310
Encyclopedic resources Wikidata; Q54838851
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13