ID   WG1099
AC   CVCL_UT39
SY   WG 1099
DR   Wikidata; Q98134887
RX   PubMed=1652892;
RX   PubMed=2112341;
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: 7
//
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).
//