| Cell line name |
GM02526 |
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| Accession |
CVCL_9Q79 |
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| Resource Identification Initiative |
To cite this cell line use: GM02526 (RRID:CVCL_9Q79) |
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| Comments |
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=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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| Sex of cell |
Female |
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| Age at sampling |
2Y |
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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=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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM02526
|
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| Cell line databases/resources |
CLO; CLO_0033421
|
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| Encyclopedic resources |
Wikidata; Q54837531
|
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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 | 14 |
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