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Cellosaurus GM10874 (CVCL_0R38)

[Text version]
Cell line name GM10874
Accession CVCL_0R38
Resource Identification Initiative To cite this cell line use: GM10874 (RRID:CVCL_0R38)
Comments 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.Arg159Gln (c.476G>A) (R120Q); ClinVar=VCV000004291; Zygosity=Heterozygous (Coriell=GM10874).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM10874).
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 11Y
Category Transformed cell line
Publications

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; GM10874
Cell line databases/resources CLO; CLO_0024123
Biological sample resources BioSample; SAMN00800306
Encyclopedic resources Wikidata; Q54844711
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number18