| Cell line name |
GM06314 |
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| Synonyms |
GM 6314; GM06314A; GM17323 |
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| Accession |
CVCL_H157 |
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| Resource Identification Initiative |
To cite this cell line use: GM06314 (RRID:CVCL_H157) |
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| Comments |
Part of: Human variation panel.
Population: Caucasian; Italian.
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:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM06314).
- Mutation; HGNC; HGNC:4065; GAA; Simple; c.1551+1G>C (IVS10+1G>C); ClinVar=VCV000554983; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM06314).
|
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| Disease |
Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365) |
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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 |
40Y |
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| Category |
Transformed cell line |
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| Publications | PubMed=2112341; PMCID=PMC1683757
Frank Martiniuk, Mark Mehler, Stephanie Tzall, Gary Meredith, Rochelle Hirschhorn;
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Am. J. Hum. Genet. 47:73-78(1990) PubMed=1652892; PMCID=PMC1683123
Nan Zhong, Frank Martiniuk, Stephanie Tzall, Rochelle Hirschhorn;
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(1991) 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM06314
Coriell; GM17323
|
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| Cell line databases/resources |
CLO; CLO_0013649
CLO; CLO_0023128
|
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| Encyclopedic resources |
Wikidata; Q54842246
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 19 |
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