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Cellosaurus WG0285 (CVCL_UT37)

[Text version]
Cell line name WG0285
Synonyms WG 285; WG-285; WG285
Accession CVCL_UT37
Resource Identification Initiative To cite this cell line use: WG0285 (RRID:CVCL_UT37)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
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)
Category Finite cell line
Publications

PubMed=6401921; PMCID=PMC1685485
Nicholas G. Beratis, Gundula U. LaBadie, Kurt Hirschhorn;
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Am. J. Hum. Genet. 35:21-33(1983)

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)

Cross-references
Encyclopedic resources Wikidata; Q98134833
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8