ID   GM20089
AC   CVCL_1L16
DR   CLO; CLO_0028329
DR   BioSample; SAMN00805674
DR   Coriell; GM20089
DR   Wikidata; Q54850796
RX   PubMed=25488666;
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Homozygous (Coriell=GM20089).
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   Female
AG   4M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
CH   CVCL_UD93 ! GM20089 iPSC
//
RX   PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045;
RA   Raval, Kunil K.
RA   Tao, Ran
RA   White, Brent E.
RA   De Lange, Willem J.
RA   Koonce, Chad H.
RA   Yu, Jun-Ying
RA   Kishnani, Priya S.
RA   Thomson, James Alexander
RA   Mosher, Deane F.
RA   Ralphe, John Carter
RA   Kamp, Timothy J.
RT   "Pompe disease results in a Golgi-based glycosylation deficit in human
RT   induced pluripotent stem cell-derived cardiomyocytes.";
RL   J. Biol. Chem. 290:3121-3136(2015).
//