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Cellosaurus GM06314 (CVCL_H157)

[Text version]
Cell line name GM06314
Synonyms GM 6314; GM06314A; GM17323
Accession CVCL_H157
Resource Identification Initiative To cite this cell line use: GM06314 (RRID:CVCL_H157)
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.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM06314).
  • Mutation; HGNC; 4065; GAA; Simple; c.1551+1G>C (IVS10+1G>C); ClinVar=VCV000554983; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM06314).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Transformed cell line
Publications

PubMed=2112341; PMCID=PMC1683757
Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.
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
Zhong N., Martiniuk F., Tzall S., Hirschhorn R.
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
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)

Cross-references
Cell line collections (Providers) Coriell; GM06314
Coriell; GM17323
Cell line databases/resources CLO; CLO_0013649
CLO; CLO_0023128
Encyclopedic resources Wikidata; Q54842246
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number18