| Cell line name |
GM01586 |
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| Synonyms |
GM-1586; GM01586C |
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| Accession |
CVCL_9Q87 |
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| Resource Identification Initiative |
To cite this cell line use: GM01586 (RRID:CVCL_9Q87) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; 29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Homozygous (PubMed=16465621).
|
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| Disease |
I-cell disease (NCIt: C61270)
Mucolipidosis type II (ORDO: Orphanet_576) |
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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 |
5W |
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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 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=16465621; DOI=10.1086/500849; PMCID=PMC1380288
Kudo M., Brem M.S., Canfield W.M.
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; GM01586
|
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| Cell line databases/resources |
CLO; CLO_0031463
|
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| Biological sample resources |
BioSample; SAMN00806945
|
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| Encyclopedic resources |
Wikidata; Q54836930
|
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| Entry history |
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| Entry creation | 23-Feb-2016 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 13 |
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