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Cellosaurus GM01094 (CVCL_0L98)

[Text version]
Cell line name GM01094
Synonyms GM-1094
Accession CVCL_0L98
Resource Identification Initiative To cite this cell line use: GM01094 (RRID:CVCL_0L98)
Comments Population: Caucasian.
Omics: SNP array analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 10818; SGSH; Simple; p.Tyr432_Arg435delTrp432ins (c.1307del9); Zygosity=Heterozygous (Coriell=GM01094).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0M02 ! GM01739
Sex of cell Female
Age at sampling 5Y
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.
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; GM01094
Cell line databases/resources CLO; CLO_0030180
Biological sample resources BioSample; SAMN00803620
Encyclopedic resources Wikidata; Q54836641
Gene expression databases GEO; GSM1266959
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number12