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Cellosaurus GM07968 (CVCL_0R34)

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Cell line name GM07968
Synonyms GM7968
Accession CVCL_0R34
Resource Identification Initiative To cite this cell line use: GM07968 (RRID:CVCL_0R34)
Comments Population: Jewish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (Coriell=GM07968).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B5F1 (UMi035-A)
Sex of cell Male
Age at sampling 19FW
Category Finite 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; GM07968
Cell line databases/resources CLO; CLO_0010336
Encyclopedic resources Wikidata; Q54843014
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15