ID   GM04912 iPSC
AC   CVCL_UD95
SY   Pompe 2
DR   Wikidata; Q93786874
RX   PubMed=25488666;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp481Glyfs*39 (c.1441delT); ClinVar=VCV000972761; Zygosity=Heterozygous (PubMed=25488666).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp746Ter (c.2237G>A); ClinVar=VCV000280063; Zygosity=Heterozygous (PubMed=25488666).
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_F601 ! GM04912
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 9
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RX   PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045;
RA   Raval K.K., Tao R., White B.E., De Lange W.J., Koonce C.H., Yu J.-Y.,
RA   Kishnani P.S., Thomson J.A., Mosher D.F., Ralphe J.C., Kamp T.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).
//