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Cellosaurus GM09282 (CVCL_1K61)

[Text version]
Cell line name GM09282
Synonyms GM 9282
Accession CVCL_1K61
Resource Identification Initiative To cite this cell line use: GM09282 (RRID:CVCL_1K61)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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 10M
Category Transformed cell line
Publications

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; GM09282
Cell line databases/resources CLO; CLO_0012060
Encyclopedic resources Wikidata; Q54843642
Entry history
Entry creation08-Jul-2015
Last entry update29-Jun-2023
Version number10