| Cell line name |
GM02533 |
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| Synonyms |
GM02533A; GM17360 |
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| Accession |
CVCL_M926 |
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| Resource Identification Initiative |
To cite this cell line use: GM02533 (RRID:CVCL_M926) |
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| Comments |
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=11013137).
- Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (PubMed=11013137).
|
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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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| Originate from same individual |
CVCL_M927 ! GM02048 |
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| Sex of cell |
Female |
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| Age at sampling |
2Y |
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| Category |
Transformed 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=11013137; DOI=10.1016/S0002-9297(07)62941-3; PMCID=PMC1288553
Maria T. Bassi, Marta Manzoni, Eugenio Monti, Maria T. Pizzo, Andrea Ballabio, Giuseppe Borsani;
Cloning of the gene encoding a novel integral membrane protein, mucolipidin -- and identification of the two major founder mutations causing mucolipidosis type IV.
Am. J. Hum. Genet. 67:1110-1120(2000) 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; GM02533
Coriell; GM17360
|
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| Cell line databases/resources |
CLO; CLO_0013703
CLO; CLO_0033409
|
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| Encyclopedic resources |
Wikidata; Q54837537
|
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| Entry history |
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| Entry creation | 05-Nov-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 20 |
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