ID   ITPD-iPSC
AC   CVCL_0H83
SY   Infantile-Type Pompe Disease-iPSC
DR   SKIP; SKIP000577
DR   Wikidata; Q54898370
RX   PubMed=24642446;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (from parent cell line).
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)
HI   CVCL_0H82 ! GM20124
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 12
//
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).
//