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Cellosaurus GM10873 (CVCL_N158)

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Cell line name GM10873
Synonyms GM17368
Accession CVCL_N158
Resource Identification Initiative To cite this cell line use: GM10873 (RRID:CVCL_N158)
Comments Part of: Human variation panel.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (Coriell=GM10873).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 79Y
Category Transformed cell line
Publications

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; GM10873
Coriell; GM17368
Cell line databases/resources CLO; CLO_0013711
CLO; CLO_0024125
Biological sample resources BioSample; SAMN00800304
Encyclopedic resources Wikidata; Q54844710
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number21