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Cellosaurus GM01607 (CVCL_7326)

[Text version]
Cell line name GM01607
Synonyms GM-1607; GM1607
Accession CVCL_7326
Resource Identification Initiative To cite this cell line use: GM01607 (RRID:CVCL_7326)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
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 30Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6593712; DOI=10.1073/pnas.81.20.6506
Beutler E., Kuhl W., Sorge J.
Cross-reacting material in Gaucher disease fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 81:6506-6510(1984)

PubMed=2464926
Wigderson M., Firon N., Horowitz Z., Wilder S., Frishberg Y., Reiner O., Horowitz M.
Characterization of mutations in Gaucher patients by cDNA cloning.
Am. J. Hum. Genet. 44:365-377(1989)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018)

Cross-references
Cell line collections (Providers) Coriell; GM01607
Cell line databases/resources CLO; CLO_0003521
CLO; CLO_0031565
CLDB; cl1488
Biological sample resources BioSample; SAMN00806969
Encyclopedic resources Wikidata; Q54836944
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number25