ID   GM20123
AC   CVCL_1L21
DR   CLO; CLO_0027718
DR   Coriell; GM20123
DR   Wikidata; Q54850806
RX   PubMed=25488666;
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (Coriell=GM20123).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 30-01-24; Version: 12
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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).
//