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Cellosaurus GM00737 (CVCL_0L94)

[Text version]
Cell line name GM00737
Synonyms GM-737
Accession CVCL_0L94
Resource Identification Initiative To cite this cell line use: GM00737 (RRID:CVCL_0L94)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7632; NAGLU; Simple; p.Tyr140Cys (c.419A>G); ClinVar=VCV000371634; Zygosity=Heterozygous (Coriell=GM00737).
  • Mutation; HGNC; 7632; NAGLU; Simple; p.Leu682Arg (c.2045T>G); ClinVar=VCV001323323; Zygosity=Heterozygous (Coriell=GM00737).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
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; GM00737
Cell line databases/resources CLO; CLO_0028814
Encyclopedic resources Wikidata; Q54836431
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number15