ID   PomD-iPSC A25
AC   CVCL_IM69
DR   GEO; GSM674582
DR   Wikidata; Q54947748
RX   PubMed=21926084;
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asp645Glu (c.1935C>A); ClinVar=VCV000004029; Zygosity=Homozygous (PubMed=21926084).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_IM67 ! PomD-iPSC A10
OI   CVCL_IM68 ! PomD-iPSC A17
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=21926084; DOI=10.1093/hmg/ddr424;
RA   Huang H.-P., Chen P.-H., Hwu W.-L., Chuang C.-Y., Chien Y.-H.,
RA   Stone L., Chien C.-L., Li L.-T., Chiang S.-C., Chen H.-F., Ho H.-N.,
RA   Chen C.-H., Kuo H.-C.;
RT   "Human Pompe disease-induced pluripotent stem cells for pathogenesis
RT   modeling, drug testing and disease marker identification.";
RL   Hum. Mol. Genet. 20:4851-4864(2011).
//