| Cell line name |
GM02528 |
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| Accession |
CVCL_9Q81 |
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| Resource Identification Initiative |
To cite this cell line use: GM02528 (RRID:CVCL_9Q81) |
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| Comments |
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=19815695).
|
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| Disease |
Mucolipidosis type IV (NCIt: C84896)
Mucolipidosis type IV (ORDO: Orphanet_578) |
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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 |
8M |
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| Category |
Finite cell line |
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| 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) PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors
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; GM02528
|
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| Cell line databases/resources |
CLO; CLO_0033417
|
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| Encyclopedic resources |
Wikidata; Q54837533
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| Entry history |
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| Entry creation | 23-Feb-2016 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 15 |
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