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Cellosaurus GM00527 (CVCL_U385)

[Text version]
Cell line name GM00527
Synonyms GM-527
Accession CVCL_U385
Resource Identification Initiative To cite this cell line use: GM00527 (RRID:CVCL_U385)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Trp420Cys (c.1260G>C); ClinVar=VCV000003901; Zygosity=Heterozygous (Coriell=GM00527).
  • Mutation; HGNC; 4878; HEXA; Simple; c.1330+1G>A (IVS11+1G>A); ClinVar=VCV000371490; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM00527).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_9S11 (ESi042-A)
Sex of cell Male
Age at sampling 1Y
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; GM00527
Cell line databases/resources CLO; CLO_0026040
Encyclopedic resources Wikidata; Q54836292
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number19