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Cellosaurus GM00879 (CVCL_0L95)

[Text version]
Cell line name GM00879
Synonyms GM-879
Accession CVCL_0L95
Resource Identification Initiative To cite this cell line use: GM00879 (RRID:CVCL_0L95)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (Coriell=GM00879).
  • Mutation; HGNC; 10818; SGSH; Simple; p.Glu447Lys (c.1339G>A); ClinVar=VCV000005114; Zygosity=Heterozygous (Coriell=GM00879).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UD89 (IMEDEAi004-A)CVCL_UD90 (IMEDEAi004-B)
Sex of cell Female
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; GM00879
Cell line databases/resources CLO; CLO_0029618
Encyclopedic resources Wikidata; Q54836498
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16