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Cellosaurus GM02774 (CVCL_4N34)

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Cell line name GM02774
Synonyms GM 2774
Accession CVCL_4N34
Resource Identification Initiative To cite this cell line use: GM02774 (RRID:CVCL_4N34)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Heterozygous (Coriell=GM02774).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Publications

PubMed=6303650; DOI=10.1111/j.1399-0004.1983.tb01874.x
Johan F. Jongkind, Anton Verkerk, Martinus F. Niermeijer;
Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.
Clin. Genet. 23:261-266(1983)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM02774
Cell line databases/resources CLO; CLO_0014796
Biological sample resources BioSample; SAMN00808104
Encyclopedic resources Wikidata; Q54837681
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number11