ID   HPS0176
AC   CVCL_T933
SY   A000027#33-1; iPSC Pompe2
DR   RCB; HPS0176
DR   SKIP; SKIP000080
DR   SKIP; SKIP000250
DR   Wikidata; Q54890342
RX   PubMed=26199952;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Pro266Ser (c.796C>T); ClinVar=VCV000556117; Zygosity=Heterozygous (PubMed=26199952).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Met439Lys (c.1316T>A); ClinVar=VCV000371305; Zygosity=Heterozygous (PubMed=26199952).
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)
OI   CVCL_T932 ! HPS0175
OI   CVCL_T934 ! HPS0177
SX   Female
AG   1-9Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 13
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RX   PubMed=26199952; DOI=10.1038/mtm.2015.23; PMCID=PMC4495721;
RA   Sato Y., Kobayashi H., Higuchi T., Shimada Y., Era T., Kimura S.,
RA   Eto Y., Ida H., Ohashi T.;
RT   "Disease modeling and lentiviral gene transfer in patient-specific
RT   induced pluripotent stem cells from late-onset Pompe disease
RT   patient.";
RL   Mol. Ther. Methods Clin. Dev. 2:15023-15023(2015).
//