| Cell line name |
GM00112 |
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| Synonyms |
GM-112; GM00112A |
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| Accession |
CVCL_F268 |
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| Resource Identification Initiative |
To cite this cell line use: GM00112 (RRID:CVCL_F268) |
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| Comments |
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; 11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Homozygous (PubMed=19815695).
|
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| Disease |
Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
10M |
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| Category |
Finite cell line |
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| 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) 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00112
|
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| Cell line databases/resources |
CLO; CLO_0003508
CLO; CLO_0025826
CLDB; cl1475
|
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| Biological sample resources |
BioSamples; SAME43457
|
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| Encyclopedic resources |
Wikidata; Q54836045
|
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| Entry history |
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| Entry creation | 22-Oct-2012 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 17 |
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