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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
Beratis N.G., LaBadie G.U., Hirschhorn K.
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Am. J. Hum. Genet. 35:21-33(1983)

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)

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