ID   WG0285
AC   CVCL_UT37
SY   WG 285; WG-285; WG285
DR   Wikidata; Q98134833
RX   PubMed=1652892;
RX   PubMed=2112341;
RX   PubMed=6401921;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84734; Glycogen storage disease type II
DI   ORDO; Orphanet_365; Glycogen storage disease due to acid maltase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=1652892; PMCID=PMC1683123;
RA   Zhong N., Martiniuk F., Tzall S., Hirschhorn R.;
RT   "Identification of a missense mutation in one allele of a patient with
RT   Pompe disease, and use of endonuclease digestion of PCR-amplified RNA
RT   to demonstrate lack of mRNA expression from the second allele.";
RL   Am. J. Hum. Genet. 49:635-645(1991).
//
RX   PubMed=2112341; PMCID=PMC1683757;
RA   Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.;
RT   "Extensive genetic heterogeneity in patients with acid alpha
RT   glucosidase deficiency as detected by abnormalities of DNA and mRNA.";
RL   Am. J. Hum. Genet. 47:73-78(1990).
//
RX   PubMed=6401921; PMCID=PMC1685485;
RA   Beratis N.G., LaBadie G.U., Hirschhorn K.;
RT   "Genetic heterogeneity in acid alpha-glucosidase deficiency.";
RL   Am. J. Hum. Genet. 35:21-33(1983).
//