ID   GM11661
AC   CVCL_0H81
DR   CLO; CLO_0021330
DR   Coriell; GM11661
DR   Wikidata; Q54845213
RX   CelloPub=CLPUB00447;
RX   PubMed=24642446;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM11661).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (Coriell=GM11661).
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)
SX   Male
AG   38Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=24642446; DOI=10.1016/j.ymgme.2014.02.012;
RA   Higuchi T., Kawagoe S., Otsu M., Shimada Y., Kobayashi H.,
RA   Hirayama R., Eto K., Ida H., Ohashi T., Nakauchi H., Eto Y.;
RT   "The generation of induced pluripotent stem cells (iPSCs) from
RT   patients with infantile and late-onset types of Pompe disease and the
RT   effects of treatment with acid-alpha-glucosidase in Pompe's iPSCs.";
RL   Mol. Genet. Metab. 112:44-48(2014).
//