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Cellosaurus GM00643 (CVCL_0L93)

[Text version]
Cell line name GM00643
Synonyms GM-643
Accession CVCL_0L93
Resource Identification Initiative To cite this cell line use: GM00643 (RRID:CVCL_0L93)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 10818; SGSH; Simple; p.Val361Serfs*52 (c.1080delC) (1091delC); ClinVar=VCV000518268; Zygosity=Heterozygous (Coriell=GM00643).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
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; GM00643
Cell line databases/resources CLO; CLO_0028882
Encyclopedic resources Wikidata; Q54836369
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number14