ID   M-3773
AC   CVCL_A7QX
DR   Wikidata; Q107115886
RX   PubMed=6401921;
RX   PubMed=6418414;
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   Sex unspecified
AG   >30Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=6418414; DOI=10.1016/0009-8981(83)90179-1;
RA   Beratis, Nicholas G.
RA   Wilbur, Lorraine
RA   Sklower Brooks, Susan L.
RT   "Acid alpha-glucosidase deficiency in cultured fibroblasts with
RT   phenotype 2 of acid alpha-glucosidase.";
RL   Clin. Chim. Acta 134:11-16(1983).
//
RX   PubMed=6401921; PMCID=PMC1685485;
RA   Beratis, Nicholas G.
RA   LaBadie, Gundula U.
RA   Hirschhorn, Kurt
RT   "Genetic heterogeneity in acid alpha-glucosidase deficiency.";
RL   Am. J. Hum. Genet. 35:21-33(1983).
//