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Cellosaurus GM02455 (CVCL_9W84)

[Text version]
Cell line name GM02455
Accession CVCL_9W84
Resource Identification Initiative To cite this cell line use: GM02455 (RRID:CVCL_9W84)
Comments Population: Caucasian.
Omics: Variations; SNP array analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM02455).
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Arg482His (c.1445G>A); ClinVar=VCV000000932; Zygosity=Heterozygous (Coriell=GM02455).
Disease Mucopolysaccharidosis type IVB (NCIt: C84902)
Mucopolysaccharidosis type 4B (ORDO: Orphanet_309310)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
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)

PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Lisanne Morcos, Bing Ge, Vonda Koka, Kevin C.L. Lam, Dmitry K. Pokholok, Kevin L. Gunderson, Alexandre Montpetit, Dominique J. Verlaan, Tomi Pastinen;
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Veronique Adoue, Alicia Schiavi, Nicholas Light, Jonas Carlsson Almlof, Per Lundmark, Bing Ge, Tony Kwan, Maxime Caron, Lars Ronnblom, Chuan Wang, Shu-Huang Chen ...Show all 17 authors... , Alison H. Goodall, Francois Cambien, Panos Deloukas, Willem Hendrik Ouwehand, Ann-Christine Syvanen, Tomi Pastinen; Show fewer authors
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)

Cross-references
Cell line collections (Providers) Coriell; GM02455
Cell line databases/resources CLO; CLO_0033335
Biological sample resources BioSample; SAMN00807796
Encyclopedic resources Wikidata; Q54837504
Gene expression databases GEO; GSM651122
GEO; GSM651123
GEO; GSM1266980
GEO; GSM1267058
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number16