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Cellosaurus GM06214 (CVCL_1V16)

[Text version]
Cell line name GM06214
Synonyms GM 06214
Accession CVCL_1V16
Resource Identification Initiative To cite this cell line use: GM06214 (RRID:CVCL_1V16)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Homozygous (Coriell=GM06214).
Disease Hurler syndrome (NCIt: C61261)
Hurler syndrome (ORDO: Orphanet_93473)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
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=8328452
Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am. J. Hum. Genet. 53:330-338(1993)

Cross-references
Cell line collections (Providers) Coriell; GM06214
Cell line databases/resources CLO; CLO_0023147
Encyclopedic resources Wikidata; Q54842221
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number13