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Cellosaurus GM03051 (CVCL_4N36)

[Text version]
Cell line name GM03051
Synonyms GM3051
Accession CVCL_4N36
Resource Identification Initiative To cite this cell line use: GM03051 (RRID:CVCL_4N36)
Comments Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=3375249).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
Category Finite cell line
Publications

PubMed=3375249; DOI=10.1073/pnas.85.11.3955
Myerowitz R.
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Proc. Natl. Acad. Sci. U.S.A. 85:3955-3959(1988)

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; GM03051
Cell line databases/resources CLO; CLO_0013501
Biological sample resources BioSample; SAMN00808226
Encyclopedic resources Wikidata; Q54837838
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13