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Cellosaurus GM00112 (CVCL_F268)

[Text version]
Cell line name GM00112
Synonyms GM-112; GM00112A
Accession CVCL_F268
Resource Identification Initiative To cite this cell line use: GM00112 (RRID:CVCL_F268)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
Disease Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10M
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
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)

Cross-references
Cell line collections (Providers) Coriell; GM00112
Cell line databases/resources CLO; CLO_0003508
CLO; CLO_0025826
CLDB; cl1475
Biological sample resources BioSamples; SAME43457
Encyclopedic resources Wikidata; Q54836045
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number18