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Cellosaurus GM00514 (CVCL_U383)

[Text version]
Cell line name GM00514
Synonyms GM-514
Accession CVCL_U383
Resource Identification Initiative To cite this cell line use: GM00514 (RRID:CVCL_U383)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
Cell type: Fibroblast of heart; CL=CL_0002548.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (from familial inference of GM00515).
  • Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (from familial inference of GM00515).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
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; GM00514
Cell line databases/resources CLO; CLO_0025936
Encyclopedic resources Wikidata; Q54836281
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number11