| Cell line name |
GM01006 |
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| Synonyms |
GM 1006; GM1006 |
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| Accession |
CVCL_UA02 |
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| Resource Identification Initiative |
To cite this cell line use: GM01006 (RRID:CVCL_UA02) |
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| Comments |
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:29670; GNPTAB; Simple; c.3435-1G>A (IVS19-1G>A); ClinVar=VCV000038427; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=16465621).
- Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Heterozygous (PubMed=16465621).
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| Disease |
Mucolipidosis type IIIA (NCIt: C125595)
Mucolipidosis type III alpha/beta (ORDO: Orphanet_423461) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Category |
Finite cell line |
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| Publications | PubMed=113895; DOI=10.1007/BF01539157
Thomas Byron Shows, Linda Ruth Scrafford-Wolff, Judith A. Brown, Miriam H. Meisler;
GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).
Somatic Cell Genet. 5:147-158(1979) PubMed=16465621; DOI=10.1086/500849; PMCID=PMC1380288
Mariko Kudo, Michael S. Brem, William M. Canfield;
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene.
Am. J. Hum. Genet. 78:451-463(2006) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01006 - Discontinued
|
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| Encyclopedic resources |
Wikidata; Q93568868
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| Entry history |
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| Entry creation | 13-Nov-2018 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 10 |
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