ID   SZ-Pompe4
AC   CVCL_YL62
SY   SZ-Pompe4 PGD; Pompe#4
DR   NIHhESC; NIHhESC-20-0474
DR   Wikidata; Q98133040
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0474.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg819Pro (c.2456G>C); ClinVar=VCV001693550; Zygosity=Homozygous (NIHhESC=NIHhESC-20-0474).
CC   Miscellaneous: Sex of donor from personal communication of Eiges, Rachel.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 11
//