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Cellosaurus GM03052 (CVCL_4N37)

[Text version]
Cell line name GM03052
Synonyms GM3052
Accession CVCL_4N37
Resource Identification Initiative To cite this cell line use: GM03052 (RRID:CVCL_4N37)
Comments Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM03052).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 24Y
Category Finite cell line
Publications

PubMed=3375249; DOI=10.1073/pnas.85.11.3955; PMCID=PMC280339
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03052
Cell line databases/resources CLO; CLO_0013500
Biological sample resources BioSample; SAMN00808227
Encyclopedic resources Wikidata; Q54837839
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number13